General term for a number of inherited defects of amino acid metabolism in which there is a deficiency or absence of pigment in the eyes, skin, or hair.
Heterogeneous group of autosomal recessive disorders comprising at least four recognized types, all having in common varying degrees of hypopigmentation of the skin, hair, and eyes. The two most common are the tyrosinase-positive and tyrosinase-negative types.
An enzyme of the oxidoreductase class that catalyzes the reaction between L-tyrosine, L-dopa, and oxygen to yield L-dopa, dopaquinone, and water. It is a copper protein that acts also on catechols, catalyzing some of the same reactions as CATECHOL OXIDASE. EC 1.14.18.1.
Syndrome characterized by the triad of oculocutaneous albinism (ALBINISM, OCULOCUTANEOUS); PLATELET STORAGE POOL DEFICIENCY; and lysosomal accumulation of ceroid lipofuscin.
Involuntary movements of the eye that are divided into two types, jerk and pendular. Jerk nystagmus has a slow phase in one direction followed by a corrective fast phase in the opposite direction, and is usually caused by central or peripheral vestibular dysfunction. Pendular nystagmus features oscillations that are of equal velocity in both directions and this condition is often associated with visual loss early in life. (Adams et al., Principles of Neurology, 6th ed, p272)
A condition caused by a deficiency or a loss of melanin pigmentation in the epidermis, also known as hypomelanosis. Hypopigmentation can be localized or generalized, and may result from genetic defects, trauma, inflammation, or infections.
The common orally transmitted traditions, myths, festivals, songs, superstitions, and stories of all peoples.
Melanin-containing organelles found in melanocytes and melanophores.
Nystagmus present at birth or caused by lesions sustained in utero or at the time of birth. It is usually pendular, and is associated with ALBINISM and conditions characterized by early loss of central vision. Inheritance patterns may be X-linked, autosomal dominant, or recessive. (Adams et al., Principles of Neurology, 6th ed, p275)
Color of the iris.
Mammalian pigment cells that produce MELANINS, pigments found mainly in the EPIDERMIS, but also in the eyes and the hair, by a process called melanogenesis. Coloration can be altered by the number of melanocytes or the amount of pigment produced and stored in the organelles called MELANOSOMES. The large non-mammalian melanin-containing cells are called MELANOPHORES.
Coloration or discoloration of a part by a pigment.
Autosomal dominant, congenital disorder characterized by localized hypomelanosis of the skin and hair. The most familiar feature is a white forelock presenting in 80 to 90 percent of the patients. The underlying defect is possibly related to the differentiation and migration of melanoblasts, as well as to defective development of the neural crest (neurocristopathy). Piebaldism may be closely related to WAARDENBURG SYNDROME.
Insoluble polymers of TYROSINE derivatives found in and causing darkness in skin (SKIN PIGMENTATION), hair, and feathers providing protection against SUNBURN induced by SUNLIGHT. CAROTENES contribute yellow and red coloration.
Pigmentation disorders are conditions that affect the production or distribution of melanin, the pigment responsible for skin, hair, and eye color, leading to changes in the color of these bodily features.
The electric response evoked in the cerebral cortex by visual stimulation or stimulation of the visual pathways.
A form of phagocyte bactericidal dysfunction characterized by unusual oculocutaneous albinism, high incidence of lymphoreticular neoplasms, and recurrent pyogenic infections. In many cell types, abnormal lysosomes are present leading to defective pigment distribution and abnormal neutrophil functions. The disease is transmitted by autosomal recessive inheritance and a similar disorder occurs in the beige mouse, the Aleutian mink, and albino Hereford cattle.
Coloration of the skin.
Membrane proteins whose primary function is to facilitate the transport of molecules across a biological membrane. Included in this broad category are proteins involved in active transport (BIOLOGICAL TRANSPORT, ACTIVE), facilitated transport and ION CHANNELS.
Abnormal sensitivity to light. This may occur as a manifestation of EYE DISEASES; MIGRAINE; SUBARACHNOID HEMORRHAGE; MENINGITIS; and other disorders. Photophobia may also occur in association with DEPRESSION and other MENTAL DISORDERS.
Recording of nystagmus based on changes in the electrical field surrounding the eye produced by the difference in potential between the cornea and the retina.
A plant family of the order Liliales, subclass Liliidae, class Liliopsida (monocotyledons). Most species are perennials, native primarily to tropical America. They have creeping rootstocks, fibrous roots, and leaves in clusters at the base of the plant or borne on branched stems. The fruit is a capsule containing many seeds, or a one-seeded winged structure.
'Eye proteins' are structural or functional proteins, such as crystallins, opsins, and collagens, located in various parts of the eye, including the cornea, lens, retina, and aqueous humor, that contribute to maintaining transparency, refractive power, phototransduction, and overall integrity of the visual system.
Genetic diseases that are linked to gene mutations on the X CHROMOSOME in humans (X CHROMOSOME, HUMAN) or the X CHROMOSOME in other species. Included here are animal models of human X-linked diseases.
A family of fresh water fish in the order CHARACIFORMES, which includes the Tetras.
The state of estrangement individuals feel in cultural settings that they view as foreign, unpredictable, or unacceptable.
An enzyme of the oxidoreductase class that catalyzes the reaction between catechol and oxygen to yield benzoquinone and water. It is a complex of copper-containing proteins that acts also on a variety of substituted catechols. EC 1.10.3.1.
The record of descent or ancestry, particularly of a particular condition or trait, indicating individual family members, their relationships, and their status with respect to the trait or condition.
Geological formations consisting of underground enclosures with access from the surface.
A heterogeneous group of bone dysplasias, the common character of which is stippling of the epiphyses in infancy. The group includes a severe autosomal recessive form (CHONDRODYSPLASIA PUNCTATA, RHIZOMELIC), an autosomal dominant form (Conradi-Hunermann syndrome), and a milder X-linked form. Metabolic defects associated with impaired peroxisomes are present only in the rhizomelic form.
Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations.
Color of hair or fur.
The X-shaped structure formed by the meeting of the two optic nerves. At the optic chiasm the fibers from the medial part of each retina cross to project to the other side of the brain while the lateral retinal fibers continue on the same side. As a result each half of the brain receives information about the contralateral visual field from both eyes.
An area approximately 1.5 millimeters in diameter within the macula lutea where the retina thins out greatly because of the oblique shifting of all layers except the pigment epithelium layer. It includes the sloping walls of the fovea (clivus) and contains a few rods in its periphery. In its center (foveola) are the cones most adapted to yield high visual acuity, each cone being connected to only one ganglion cell. (Cline et al., Dictionary of Visual Science, 4th ed)
Glycoproteins found on the membrane or surface of cells.
Disorder characterized by a decrease or lack of platelet dense bodies in which the releasable pool of adenine nucleotides and 5HT are normally stored.
The layer of pigment-containing epithelial cells in the RETINA; the CILIARY BODY; and the IRIS in the eye.
A republic in western Africa, south of SENEGAL and MALI, east of GUINEA-BISSAU. Its capital is Conakry.
Clarity or sharpness of OCULAR VISION or the ability of the eye to see fine details. Visual acuity depends on the functions of RETINA, neuronal transmission, and the interpretative ability of the brain. Normal visual acuity is expressed as 20/20 indicating that one can see at 20 feet what should normally be seen at that distance. Visual acuity can also be influenced by brightness, color, and contrast.
Any of several generalized skin disorders characterized by dryness, roughness, and scaliness, due to hypertrophy of the stratum corneum epidermis. Most are genetic, but some are acquired, developing in association with other systemic disease or genetic syndrome.
A genetically heterogeneous disorder caused by hypothalamic GNRH deficiency and OLFACTORY NERVE defects. It is characterized by congenital HYPOGONADOTROPIC HYPOGONADISM and ANOSMIA, possibly with additional midline defects. It can be transmitted as an X-linked (GENETIC DISEASES, X-LINKED), an autosomal dominant, or an autosomal recessive trait.
The concave interior of the eye, consisting of the retina, the choroid, the sclera, the optic disk, and blood vessels, seen by means of the ophthalmoscope. (Cline et al., Dictionary of Visual Science, 4th ed)
An autosomal dominant disorder caused by deletion of the proximal long arm of the paternal chromosome 15 (15q11-q13) or by inheritance of both of the pair of chromosomes 15 from the mother (UNIPARENTAL DISOMY) which are imprinted (GENETIC IMPRINTING) and hence silenced. Clinical manifestations include MENTAL RETARDATION; MUSCULAR HYPOTONIA; HYPERPHAGIA; OBESITY; short stature; HYPOGONADISM; STRABISMUS; and HYPERSOMNOLENCE. (Menkes, Textbook of Child Neurology, 5th ed, p229)
An island in the Greater Antilles in the West Indies. Its capital is San Juan. It is a self-governing commonwealth in union with the United States. It was discovered by Columbus in 1493 but no colonization was attempted until 1508. It belonged to Spain until ceded to the United States in 1898. It became a commonwealth with autonomy in internal affairs in 1952. Columbus named the island San Juan for St. John's Day, the Monday he arrived, and the bay Puerto Rico, rich harbor. The island became Puerto Rico officially in 1932. (From Webster's New Geographical Dictionary, 1988, p987 & Room, Brewer's Dictionary of Names, 1992, p436)
A melanocortin receptor subtype found primarily in MELANOCYTES. It shows specificity for ALPHA-MSH and ADRENOCORTICOTROPIC HORMONE. Loss of function mutations of the type 1 melanocortin receptor account for the majority of red hair and fair skin recessive traits in human.
Chromatophores (large pigment cells of fish, amphibia, reptiles and many invertebrates) which contain melanin. Short term color changes are brought about by an active redistribution of the melanophores pigment containing organelles (MELANOSOMES). Mammals do not have melanophores; however they have retained smaller pigment cells known as MELANOCYTES.
Chemical or physical agents that protect the skin from sunburn and erythema by absorbing or blocking ultraviolet radiation.
Genes that influence the PHENOTYPE only in the homozygous state.
A republic in southern Africa, east of ZAMBIA and BOTSWANA and west of MOZAMBIQUE. Its capital is Harare. It was formerly called Rhodesia and Southern Rhodesia.
The class of all enzymes catalyzing oxidoreduction reactions. The substrate that is oxidized is regarded as a hydrogen donor. The systematic name is based on donor:acceptor oxidoreductase. The recommended name will be dehydrogenase, wherever this is possible; as an alternative, reductase can be used. Oxidase is only used in cases where O2 is the acceptor. (Enzyme Nomenclature, 1992, p9)
A family of large adaptin protein complex subunits of approximately 90-130 kDa in size.
An injury to the skin causing erythema, tenderness, and sometimes blistering and resulting from excessive exposure to the sun. The reaction is produced by the ultraviolet radiation in sunlight.
Spontaneous or near spontaneous bleeding caused by a defect in clotting mechanisms (BLOOD COAGULATION DISORDERS) or another abnormality causing a structural flaw in the blood vessels (HEMOSTATIC DISORDERS).
Diseases, dysfunctions, or disorders of or located in the iris.
A naturally occurring lipid pigment with histochemical characteristics similar to lipofuscin. It accumulates in various tissues in certain experimental and pathological conditions.
Set of cell bodies and nerve fibers conducting impulses from the eyes to the cerebral cortex. It includes the RETINA; OPTIC NERVE; optic tract; and geniculocalcarine tract.

Giant eyes in Xenopus laevis by overexpression of XOptx2. (1/186)

Overexpression of XOptx2, a homeodomain-containing transcription factor expressed in the Xenopus embryonic eye field, results in a dramatic increase in eye size. An XOptx2-Engrailed repressor gives a similar phenotype, while an XOptx2-VP16 activator reduces eye size. XOptx2 stimulates bromodeoxyuridine incorporation, and XOptx2-induced eye enlargement is dependent on cellular proliferation. Moreover, retinoblasts transfected with XOptx2 produce clones of cells approximately twice as large as control clones. Pax6, which does not increase eye size alone, acts synergistically with XOptx2. Our results suggest that XOptx2, in combination with other genes expressed in the eye field, is crucially involved in the proliferative state of retinoblasts and thereby the size of the eye.  (+info)

Induction of melanoma in TPras transgenic mice. (2/186)

In order to study the oncogenesis of melanocytes, transgenic mouse lines were established that express a mutated human Ha-ras (TPras) gene in pigment producing cells. The ras transgenic mice exhibit an altered phenotype, including melanocytic hyperplasia and a muted agouti coat, indicative of hyperproliferative melanocytes. These mice and their wild-type littermates have been subjected to a variety of carcinogenesis protocols, including 7, 12-dimethylbenz-[a]anthracene (DMBA), 12-O-tetradecanoylphorbol-13-acetate (TPA) and UV radiation exposure. Topical DMBA treatment of TPras mice resulted in a high incidence of melanomas. Metastatic lesions were observed in skin, lungs and lymph nodes. TPA treatment of TPras mice induced a small number of papillomas but no nevi or melanomas. UV light exposures induced papillomas in negative littermate and melanomas in some albino TPras mice. These results show that melanocytes expressing an activated Ha-ras in the TPras transgenic mice are susceptible to induction of melanoma by DMBA.  (+info)

Genetic disorders of vision revealed by a behavioral screen of 400 essential loci in zebrafish. (3/186)

We examined optokinetic and optomotor responses of 450 zebrafish mutants, which were isolated previously based on defects in organ formation, tissue patterning, pigmentation, axon guidance, or other visible phenotypes. These strains carry single point mutations in >400 essential loci. We asked which fraction of the mutants develop blindness or other types of impairments specific to the visual system. Twelve mutants failed to respond in either one or both of our assays. Subsequent histological and electroretinographic analysis revealed unique deficits at various stages of the visual pathway, including lens degeneration (bumper), melanin deficiency (sandy), lack of ganglion cells (lakritz), ipsilateral misrouting of axons (belladonna), optic-nerve disorganization (grumpy and sleepy), inner nuclear layer or outer plexiform layer malfunction (noir, dropje, and possibly steifftier), and disruption of retinotectal impulse activity (macho and blumenkohl). Surprisingly, mutants with abnormally large or small eyes or severe wiring defects frequently exhibit no discernible behavioral deficits. In addition, we identified 13 blind mutants that display outer-retina dystrophy, making this syndrome the single-most common cause of inherited blindness in zebrafish. Our screen showed that a significant fraction (approximately 5%) of the essential loci also participate in visual functions but did not reveal any systematic genetic linkage to particular morphological traits. The mutations uncovered by our behavioral assays provide distinct entry points for the study of visual pathways and set the stage for a genetic dissection of vertebrate vision.  (+info)

Extrinsic modulation of retinal ganglion cell projections: analysis of the albino mutation in pigmentation mosaic mice. (4/186)

Tyrosinase is a key enzyme involved in the synthesis of melanin in the retinal pigment epithelium (RPE). Mice that are homozygous for the albino allele at the tyrosinase locus have fewer retinal ganglion cells with uncrossed projections at the optic chiasm. To determine the site of the albino gene action we studied the projections of retinal ganglion cells in two types of pigmentation mosaic mice. First, we generated mosaic mice that contain a translocated allele of the wild-type tyrosinase on one X chromosome but that also have the lacZ reporter transgene on the opposite X chromosome. In these lacZ/tyrosinase mice, which are homozygous for the albino allele on chromosome 7, X-inactivation ensures that tyrosinase cannot be functional within 50% of the retinal ganglion cells and that these individual cells can be identified by their expression of the lacZ reporter gene product, beta-galactosidase. The proportion of uncrossed retinal ganglion cells expressing beta-galactosidase was found to be identical to the proportion that did not express it, indicating that the albino mutation associated with axonal behavior at the optic chiasm must affect ganglion cells in a cell-extrinsic manner. Second, to determine whether the RPE is the source of the extrinsic signal, we generated aggregation chimeras between pigmented and albino mice. In these mosaic mice, the extent of the uncrossed projection corresponded with the amount of pigmented cells within the RPE, but did not correspond with the genotypes of neural retinal cells. These studies demonstrate that the albino mutation acts indirectly upon retinal ganglion cells, which in turn respond by making axonal guidance errors at the optic chiasm.  (+info)

Genetically determined protein polymorphism in the rabbit nervous system. (5/186)

One of the polypeptides (H1) of the rabbit nervous system occurs in an altered form (H2) in some rabbits. The electrophoretic mobility of H2 on sodium dodecyl sulfate-polyacrylamide gels is about 6% greater than that of H1, suggesting that the two polypeptides differ in molecular weight by about 10,000. The alteration is genetically determined since (i) rabbit phenotypes corresponding to all possible genotypes (H1H1, H1H2, H2H2) were present in an outbred population of rabbits, (ii) the frequency of the phenotype corresponding to the heterozygous genotype (H1H2) was smaller in partially inbred rabbit populations than in outbred populations, and (iii) all of the individuals examined from two partially inbred strains (WH/J and X/J) were of the phenotype that would be expected if they were homozygous (H2H2) for the rare allele of the gene. Preliminary evidence indicates that this polymorphic polypeptide is most abundant in the white matter of the nervous systems of several mammalian species, and is distributed with buffers of low ionic strength and centrifuged at 100,000 Xg.  (+info)

arg-cys substitution at codon 1246 of the human myosin Va gene is not associated with Griscelli syndrome. (6/186)

Myosin Va is an actin-associated motor protein involved in organelle transport such as melanosomes and neuron synaptic vesicles and has always been proposed as the candidate gene for the autosomal recessive Griscelli-Prunieras syndrome, one of the silvery hair syndromes, which is a lethal disease combining immunodeficiency and neurologic and pigmentary abnormalities. Thus far, two mutations in the myosin Va gene have been described to be associated with this syndrome. One of these mutations was a homozygous mis-sense mutation causing an arginine to cysteine alteration at codon 1246. Because we also found this particular substitution after mutation analysis of a Griscelli patient, we checked its relevance in a control group of 124 unrelated healthy individuals and found it to be present, even in homozygous state, in normal unaffected individuals. It is clear that this arg1246cys substitution is a polymorphism occurring in the human population and not occurring in association with Griscelli syndrome. Distinguishing a polymorphism from a bona fide mutation is of utmost importance and has major ethical implications with regard to prenatal genetic counseling in affected families.  (+info)

X mapping in man: evidence against direct measurable linkage between ocular albinism and deutan colour blindness. (7/186)

A Newfoundland kindred in which ocular albinism and deutan colour blindness are segregating provides strong evidence against the loci for these two X-borne characters being within direct measurable distance of each other.  (+info)

Bile mediates intestinal pathology in endotoxemia in rats. (8/186)

Intestinal pathology frequently accompanies experimental endotoxic shock and is mediated by proinflammatory cytokines. Our hypotheses are that hepatobiliary factors operating from the luminal side of the gut make a major contribution to this damage and that tumor necrosis factor alpha (TNF-alpha) is involved in the pathology. We treated rats with lipopolysaccharide (LPS) intravenously and found that external drainage of bile totally protected the gastrointestinal tract, macroscopically and microscopically, 4 h after LPS administration and dramatically improved survival of the animals for 48 h after LPS administration. The concentration of TNF-alpha in bile increased markedly after LPS administration and was over 30 times higher in bile than in serum. Tissue damage and the biliary TNF-alpha response were abrogated when animals were pretreated with gadolinium chloride to eliminate Kupffer cells. TNF-alpha infusion into the duodenal lumen caused intestinal damage similar to that elicited by intravenous LPS. In rats treated with LPS, survival was significantly increased during the first 36 h in animals given an infusion of anti-TNF-alpha antibody into the duodenum. These results demonstrate that in endotoxemia, intestinal damage is mediated by factors derived from the bile. The findings indicate that luminally acting TNF-alpha contributes to the intestinal damage.  (+info)

Albinism is a group of genetic disorders that result in little or no production of melanin, the pigment responsible for coloring skin, hair, and eyes. It is caused by mutations in genes involved in the production of melanin. There are several types of albinism, including oculocutaneous albinism (OCA) and ocular albinism (OA). OCA affects the skin, hair, and eyes, while OA primarily affects the eyes.

People with albinism typically have very pale skin, white or light-colored hair, and light-colored eyes. They may also have vision problems, such as sensitivity to light (photophobia), rapid eye movements (nystagmus), and decreased visual acuity. The severity of these symptoms can vary depending on the type and extent of albinism.

Albinism is inherited in an autosomal recessive manner, which means that an individual must inherit two copies of the mutated gene, one from each parent, in order to have the condition. If both parents are carriers of a mutated gene for albinism, they have a 25% chance with each pregnancy of having a child with albinism.

There is no cure for albinism, but individuals with the condition can take steps to protect their skin and eyes from the sun and use visual aids to help with vision problems. It is important for people with albinism to undergo regular eye examinations and to use sun protection, such as sunscreen, hats, and sunglasses, to prevent skin damage and skin cancer.

Oculocutaneous albinism (OCA) is a group of genetic disorders characterized by reduced or complete absence of melanin pigment in the eyes, skin, and hair. Melanin is the pigment responsible for giving color to our skin, hair, and eyes. OCA affects both the eyes (oculo-) and the skin (cutaneous), hence the name oculocutaneous albinism.

There are several types of OCA, each caused by different genetic mutations affecting melanin production. The most common forms include:

1. OCA1: This type is further divided into two subtypes - OCA1A and OCA1B. OCA1A is characterized by complete absence of melanin in the eyes, skin, and hair from birth. Individuals with this condition have white hair, very light skin, and pale blue or gray irises. OCA1B, on the other hand, presents with reduced melanin production, leading to lighter-than-average skin, hair, and eye color at birth. Over time, some melanin may be produced, resulting in milder pigmentation changes compared to OCA1A.
2. OCA2: This form of albinism is caused by mutations in the tyrosinase-related protein 1 (TYRP1) gene, which plays a role in melanin production. Individuals with OCA2 typically have light brown or yellowish skin, golden or straw-colored hair, and lighter irises compared to their family members without albinism.
3. OCA3: Also known as Rufous oculocutaneous albinism (ROCA), this type is caused by mutations in the tyrosinase gene (TYR). It primarily affects people of African descent, leading to reddish-brown hair, light brown skin, and normal or near-normal eye color.
4. OCA4: This form of albinism results from mutations in the membrane-associated transporter protein (MATP) gene, which is involved in melanin transport within cells. Individuals with OCA4 usually have light brown skin, yellowish or blond hair, and lighter irises compared to their family members without albinism.

Regardless of the type, all individuals with oculocutaneous albinism face similar challenges, including reduced vision due to abnormal eye development (nystagmus, strabismus, and farsightedness) and increased sensitivity to sunlight (photophobia). Proper management, such as wearing UV-protective sunglasses, hats, and sunscreen, can help protect their skin and eyes from damage.

Tyrosinase, also known as monophenol monooxygenase, is an enzyme (EC 1.14.18.1) that catalyzes the ortho-hydroxylation of monophenols (like tyrosine) to o-diphenols (like L-DOPA) and the oxidation of o-diphenols to o-quinones. This enzyme plays a crucial role in melanin synthesis, which is responsible for the color of skin, hair, and eyes in humans and animals. Tyrosinase is found in various organisms, including plants, fungi, and animals. In humans, tyrosinase is primarily located in melanocytes, the cells that produce melanin. The enzyme's activity is regulated by several factors, such as pH, temperature, and metal ions like copper, which are essential for its catalytic function.

Hermanski-Pudlak Syndrome (HPS) is a rare genetic disorder characterized by the triad of albinism, bleeding disorders, and lysosomal storage disease. It is caused by mutations in any one of several genes involved in biogenesis of lysosome-related organelles (LROs), such as melanosomes in melanocytes, platelet dense granules, and lung lamellar bodies.

The albinism in HPS results from abnormal melanosome biogenesis, leading to decreased pigmentation in the skin, hair, and eyes. The bleeding disorder is due to defective platelet dense granules, which are necessary for normal clotting function. This can result in prolonged bleeding times and easy bruising.

The lysosomal storage disease component of HPS is characterized by the accumulation of ceroid lipofuscin within LROs, leading to progressive damage to affected tissues. The most common form of HPS (HPS-1) also involves pulmonary fibrosis, which can lead to respiratory failure and death in the third or fourth decade of life.

There are currently seven known subtypes of HPS, each caused by mutations in different genes involved in LRO biogenesis. The clinical features and severity of HPS can vary widely between subtypes and even within families with the same genetic mutation.

Pathological nystagmus is an abnormal, involuntary movement of the eyes that can occur in various directions (horizontal, vertical, or rotatory) and can be rhythmical or arrhythmic. It is typically a result of a disturbance in the vestibular system, central nervous system, or ocular motor pathways. Pathological nystagmus can cause visual symptoms such as blurred vision, difficulty with fixation, and oscillopsia (the sensation that one's surroundings are moving). The type, direction, and intensity of the nystagmus may vary depending on the underlying cause, which can include conditions such as brainstem or cerebellar lesions, multiple sclerosis, drug toxicity, inner ear disorders, and congenital abnormalities.

Hypopigmentation is a medical term that refers to a condition where there is a decrease in the amount of pigment (melanin) in the skin, resulting in lighter patches or spots on the skin. This can occur due to various reasons such as skin injuries, certain skin disorders like vitiligo, fungal infections, burns, or as a side effect of some medical treatments like chemotherapy or radiation therapy. It is different from albinism, which is a genetic condition where the body is unable to produce melanin at all.

I'm afraid there seems to be a misunderstanding. Folklore is not a medical term and does not have a medical definition. It refers to the traditional customs, tales, sayings, dances, or art forms that are passed down from generation to generation within a culture or community. If you have any questions related to medical terminology or health-related topics, I'd be happy to help!

Melanosomes are membrane-bound organelles found in melanocytes, the pigment-producing cells in the skin, hair, and eyes. They contain the pigment melanin, which is responsible for giving color to these tissues. Melanosomes are produced in the melanocyte and then transferred to surrounding keratinocytes in the epidermis via a process called cytocrinesis. There are four stages of melanosome development: stage I (immature), stage II (developing), stage III (mature), and stage IV (degrading). The amount and type of melanin in the melanosomes determine the color of an individual's skin, hair, and eyes. Mutations in genes involved in melanosome biogenesis or function can lead to various pigmentation disorders, such as albinism.

Congenital nystagmus is a type of involuntary eye movement that is present at birth or develops within the first few months of life. It is characterized by rhythmic oscillations or repetitive, rapid movements of the eyes in either horizontal, vertical, or rotatory directions. These movements can impair vision and may be associated with other ocular conditions such as albinism, congenital cataracts, or optic nerve hypoplasia. The exact cause of congenital nystagmus is not fully understood, but it is believed to result from abnormal development or dysfunction in the areas of the brain that control eye movements. In some cases, congenital nystagmus may be inherited as a genetic trait. Treatment options for congenital nystagmus include corrective lenses, prism glasses, surgery, and vision therapy, depending on the underlying cause and severity of the condition.

Eye color is a characteristic determined by variations in a person's genes. The color of the eyes depends on the amount and type of pigment called melanin found in the eye's iris.

There are three main types of eye colors: brown, blue, and green. Brown eyes have the most melanin, while blue eyes have the least. Green eyes have a moderate amount of melanin combined with a golden tint that reflects light to give them their unique color.

Eye color is a polygenic trait, which means it is influenced by multiple genes. The two main genes responsible for eye color are OCA2 and HERC2, both located on chromosome 15. These genes control the production, transport, and storage of melanin in the iris.

It's important to note that eye color can change during infancy and early childhood due to the development of melanin in the iris. Additionally, some medications or medical conditions may also cause changes in eye color over time.

Melanocytes are specialized cells that produce, store, and transport melanin, the pigment responsible for coloring of the skin, hair, and eyes. They are located in the bottom layer of the epidermis (the outermost layer of the skin) and can also be found in the inner ear and the eye's retina. Melanocytes contain organelles called melanosomes, which produce and store melanin.

Melanin comes in two types: eumelanin (black or brown) and pheomelanin (red or yellow). The amount and type of melanin produced by melanocytes determine the color of a person's skin, hair, and eyes. Exposure to UV radiation from sunlight increases melanin production as a protective response, leading to skin tanning.

Melanocyte dysfunction or abnormalities can lead to various medical conditions, such as albinism (lack of melanin production), melasma (excessive pigmentation), and melanoma (cancerous growth of melanocytes).

Pigmentation, in a medical context, refers to the coloring of the skin, hair, or eyes due to the presence of pigment-producing cells called melanocytes. These cells produce a pigment called melanin, which determines the color of our skin, hair, and eyes.

There are two main types of melanin: eumelanin and pheomelanin. Eumelanin is responsible for brown or black coloration, while pheomelanin produces a red or yellow hue. The amount and type of melanin produced by melanocytes can vary from person to person, leading to differences in skin color and hair color.

Changes in pigmentation can occur due to various factors such as genetics, exposure to sunlight, hormonal changes, inflammation, or certain medical conditions. For example, hyperpigmentation refers to an excess production of melanin that results in darkened patches on the skin, while hypopigmentation is a condition where there is a decreased production of melanin leading to lighter or white patches on the skin.

Piebaldism is a rare genetic disorder characterized by the presence of white patches of skin and hair due to a lack of melanin, the pigment that gives color to skin, hair, and eyes. These patches are present from birth and typically involve the forehead, chin, and midline of the body. The condition is caused by mutations in the KIT or SLC45A2 genes and is usually inherited in an autosomal dominant pattern, meaning only one copy of the altered gene is needed to cause the disorder. Piebaldism is not harmful to a person's overall health, but it can have significant psychological effects due to its impact on appearance.

Melanin is a pigment that determines the color of skin, hair, and eyes in humans and animals. It is produced by melanocytes, which are specialized cells found in the epidermis (the outer layer of the skin) and the choroid (the vascular coat of the eye). There are two main types of melanin: eumelanin and pheomelanin. Eumelanin is a black or brown pigment, while pheomelanin is a red or yellow pigment. The amount and type of melanin produced by an individual can affect their skin and hair color, as well as their susceptibility to certain diseases, such as skin cancer.

Pigmentation disorders are conditions that affect the production or distribution of melanin, the pigment responsible for the color of skin, hair, and eyes. These disorders can cause changes in the color of the skin, resulting in areas that are darker (hyperpigmentation) or lighter (hypopigmentation) than normal. Examples of pigmentation disorders include melasma, age spots, albinism, and vitiligo. The causes, symptoms, and treatments for these conditions can vary widely, so it is important to consult a healthcare provider for an accurate diagnosis and treatment plan.

Evoked potentials, visual, also known as visually evoked potentials (VEPs), are electrical responses recorded from the brain following the presentation of a visual stimulus. These responses are typically measured using electroencephalography (EEG) and can provide information about the functioning of the visual pathways in the brain.

There are several types of VEPs, including pattern-reversal VEPs and flash VEPs. Pattern-reversal VEPs are elicited by presenting alternating checkerboard patterns, while flash VEPs are elicited by flashing a light. The responses are typically analyzed in terms of their latency (the time it takes for the response to occur) and amplitude (the size of the response).

VEPs are often used in clinical settings to help diagnose and monitor conditions that affect the visual system, such as multiple sclerosis, optic neuritis, and brainstem tumors. They can also be used in research to study the neural mechanisms underlying visual perception.

Chediak-Higashi Syndrome is a rare autosomal recessive disorder characterized by partial albinism, photophobia, bleeding diathesis, recurrent infections, and progressive neurological degeneration. It is caused by mutations in the LYST gene, which leads to abnormalities in lysosomes, melanosomes, and neutrophil granules. The disorder is named after two Mexican hematologists, Dr. Chediak and Dr. Higashi, who first described it in 1952.

The symptoms of Chediak-Higashi Syndrome typically appear in early childhood and include light skin and hair, blue or gray eyes, and a sensitivity to light. Affected individuals may also have bleeding problems due to abnormal platelets, and they are prone to recurrent bacterial infections, particularly of the skin, gums, and respiratory system.

The neurological symptoms of Chediak-Higashi Syndrome can include poor coordination, difficulty walking, and seizures. The disorder can also affect the immune system, leading to an accelerated phase known as the "hemophagocytic syndrome," which is characterized by fever, enlarged liver and spleen, and abnormal blood counts.

There is no cure for Chediak-Higashi Syndrome, and treatment typically focuses on managing the symptoms of the disorder. This may include antibiotics to treat infections, medications to control bleeding, and physical therapy to help with mobility issues. In some cases, bone marrow transplantation may be recommended as a potential cure for the disorder.

Skin pigmentation is the coloration of the skin that is primarily determined by two types of melanin pigments, eumelanin and pheomelanin. These pigments are produced by melanocytes, which are specialized cells located in the epidermis. Eumelanin is responsible for brown or black coloration, while pheomelanin produces a red or yellow hue.

The amount and distribution of melanin in the skin can vary depending on genetic factors, age, sun exposure, and various other influences. Increased production of melanin in response to UV radiation from the sun helps protect the skin from damage, leading to darkening or tanning of the skin. However, excessive sun exposure can also cause irregular pigmentation, such as sunspots or freckles.

Abnormalities in skin pigmentation can result from various medical conditions, including albinism (lack of melanin production), vitiligo (loss of melanocytes leading to white patches), and melasma (excessive pigmentation often caused by hormonal changes). These conditions may require medical treatment to manage or improve the pigmentation issues.

Membrane transport proteins are specialized biological molecules, specifically integral membrane proteins, that facilitate the movement of various substances across the lipid bilayer of cell membranes. They are responsible for the selective and regulated transport of ions, sugars, amino acids, nucleotides, and other molecules into and out of cells, as well as within different cellular compartments. These proteins can be categorized into two main types: channels and carriers (or pumps). Channels provide a passive transport mechanism, allowing ions or small molecules to move down their electrochemical gradient, while carriers actively transport substances against their concentration gradient, requiring energy usually in the form of ATP. Membrane transport proteins play a crucial role in maintaining cell homeostasis, signaling processes, and many other physiological functions.

Photophobia is a condition characterized by an abnormal sensitivity to light. It's not a fear of light, despite the name suggesting otherwise. Instead, it refers to the discomfort or pain felt in the eyes due to exposure to light, often leading to a strong desire to avoid light. This can include both natural and artificial light sources.

The severity of photophobia can vary greatly among individuals. Some people may only experience mild discomfort in bright light conditions, while others may find even moderate levels of light intolerable. It can be a symptom of various underlying health issues, including eye diseases or disorders like uveitis, keratitis, corneal abrasions, or optic neuritis, as well as systemic conditions such as migraines, meningitis, or certain medications that increase light sensitivity.

Electronystagmography (ENG) is a medical test used to assess the function of the vestibular system, which is responsible for maintaining balance and eye movements. This test measures involuntary eye movements, called nystagmus, which can be indicative of various conditions affecting the inner ear or brainstem.

During the ENG test, electrodes are placed around the eyes to record eye movements while the patient undergoes a series of stimuli, such as changes in head position, visual stimuli, and caloric irrigations (where warm or cool water is introduced into the ear canal to stimulate the inner ear). The recorded data is then analyzed to evaluate the function of the vestibular system and identify any abnormalities.

ENG testing can help diagnose conditions such as vestibular neuritis, labyrinthitis, benign paroxysmal positional vertigo (BPPV), Meniere's disease, and other balance disorders. It is also used to assess the effectiveness of various treatments for these conditions.

I apologize for any confusion, but "Pontederiaceae" is not a medical term. It is a taxonomic category in botany, specifically the name of a family of flowering plants that includes water hyacinth and pickerelweed. If you have any questions about a medical term or concept, I would be happy to help with those instead!

Eye proteins, also known as ocular proteins, are specific proteins that are found within the eye and play crucial roles in maintaining proper eye function and health. These proteins can be found in various parts of the eye, including the cornea, iris, lens, retina, and other structures. They perform a wide range of functions, such as:

1. Structural support: Proteins like collagen and elastin provide strength and flexibility to the eye's tissues, enabling them to maintain their shape and withstand mechanical stress.
2. Light absorption and transmission: Proteins like opsins and crystallins are involved in capturing and transmitting light signals within the eye, which is essential for vision.
3. Protection against damage: Some eye proteins, such as antioxidant enzymes and heat shock proteins, help protect the eye from oxidative stress, UV radiation, and other environmental factors that can cause damage.
4. Regulation of eye growth and development: Various growth factors and signaling molecules, which are protein-based, contribute to the proper growth, differentiation, and maintenance of eye tissues during embryonic development and throughout adulthood.
5. Immune defense: Proteins involved in the immune response, such as complement components and immunoglobulins, help protect the eye from infection and inflammation.
6. Maintenance of transparency: Crystallin proteins in the lens maintain its transparency, allowing light to pass through unobstructed for clear vision.
7. Neuroprotection: Certain eye proteins, like brain-derived neurotrophic factor (BDNF), support the survival and function of neurons within the retina, helping to preserve vision.

Dysfunction or damage to these eye proteins can contribute to various eye disorders and diseases, such as cataracts, age-related macular degeneration, glaucoma, diabetic retinopathy, and others.

X-linked genetic diseases refer to a group of disorders caused by mutations in genes located on the X chromosome. These conditions primarily affect males since they have only one X chromosome and therefore don't have a second normal copy of the gene to compensate for the mutated one. Females, who have two X chromosomes, are typically less affected because they usually have one normal copy of the gene on their other X chromosome.

Examples of X-linked genetic diseases include Duchenne and Becker muscular dystrophy, hemophilia A and B, color blindness, and fragile X syndrome. Symptoms and severity can vary widely depending on the specific condition and the nature of the genetic mutation involved. Treatment options depend on the particular disease but may include physical therapy, medication, or in some cases, gene therapy.

Characidae is a family of freshwater fish that are commonly known as characins. They belong to the order Characiformes and can be found primarily in tropical waters of Central and South America, with a few species in Africa. The family includes over 100 genera and more than 900 described species, making it one of the most diverse families of ray-finned fishes.

Characids exhibit a wide range of body shapes, sizes, and colors, with many having adaptations for specific ecological niches. Some well-known examples of characids include piranhas (Serrasalmus spp.), tetras (Hyphessobrycon spp., Hemigrammus spp., etc.), and hatchetfish (Gasteropelecidae).

The medical significance of characids is relatively limited, as they are not typically associated with human diseases or health issues. However, some species may be kept in aquariums as pets, and proper care should be taken to maintain water quality and prevent the spread of disease among fish populations. Additionally, research on characid fishes can contribute to our understanding of evolution, ecology, and biogeography, which have broader implications for science and conservation.

"Social alienation" is not a term that has a specific medical definition in the same way that a term like "hypertension" or "diabetes" does. However, it is often used in a psychological or sociological context to describe a state of feeling disconnected or isolated from society, including feelings of loneliness, estrangement, and rejection.

In some cases, social alienation may be associated with mental health conditions such as depression, anxiety, or schizophrenia. For example, a person with social anxiety disorder may experience social alienation due to their fear of social interactions and avoidance of social situations. Similarly, a person with schizophrenia may experience social alienation due to the stigma associated with their condition and difficulties with communication and social cues.

However, it's important to note that social alienation can also occur in people without any underlying mental health conditions. Factors such as discrimination, poverty, migration, and social upheaval can all contribute to feelings of social alienation.

Catechol oxidase, also known as polyphenol oxidase, is an enzyme that catalyzes the oxidation of catechols and other phenolic compounds to quinones. These quinones can then undergo further reactions to form various pigmented compounds, such as melanins. Catechol oxidase is widely distributed in nature and is found in plants, fungi, and some bacteria. In humans, catechol oxidase is involved in the metabolism of neurotransmitters such as dopamine and epinephrine.

I must clarify that the term "pedigree" is not typically used in medical definitions. Instead, it is often employed in genetics and breeding, where it refers to the recorded ancestry of an individual or a family, tracing the inheritance of specific traits or diseases. In human genetics, a pedigree can help illustrate the pattern of genetic inheritance in families over multiple generations. However, it is not a medical term with a specific clinical definition.

I believe there may be some confusion in your question as "caves" are not a medical term. A cave is a natural underground space that is large enough for a person to enter and can form in a variety of ways, such as the dissolution of limestone by acidic groundwater or the collapse of a volcanic tube. If you have any questions about geology or speleology (the study of caves), I would be happy to try to help answer those!

Chondrodysplasia punctata is a group of genetic disorders that affect the development of bones and cartilage. The condition is characterized by stippled calcifications, or spots of calcium deposits, in the cartilage that can be seen on X-rays. These spots are typically found at the ends of long bones, in the sternum, and in the pelvis.

The symptoms of chondrodysplasia punctata can vary widely depending on the specific type of the disorder. Some people with the condition may have short stature, bowed legs, and other skeletal abnormalities, while others may have only mild symptoms or no symptoms at all. The condition can also be associated with developmental delays, intellectual disability, and other health problems.

There are several different types of chondrodysplasia punctata, each caused by a different genetic mutation. Some forms of the disorder are inherited in an autosomal recessive manner, meaning that an individual must inherit two copies of the mutated gene (one from each parent) in order to develop the condition. Other forms of chondrodysplasia punctata are inherited in an X-linked dominant manner, meaning that a single copy of the mutated gene (on the X chromosome) is enough to cause the disorder in females. Males, who have only one X chromosome, will typically be more severely affected by X-linked dominant disorders.

There is no cure for chondrodysplasia punctata, and treatment is focused on managing the symptoms of the condition. This may include physical therapy, bracing or surgery to correct skeletal abnormalities, and medications to manage pain or other health problems.

A mutation is a permanent change in the DNA sequence of an organism's genome. Mutations can occur spontaneously or be caused by environmental factors such as exposure to radiation, chemicals, or viruses. They may have various effects on the organism, ranging from benign to harmful, depending on where they occur and whether they alter the function of essential proteins. In some cases, mutations can increase an individual's susceptibility to certain diseases or disorders, while in others, they may confer a survival advantage. Mutations are the driving force behind evolution, as they introduce new genetic variability into populations, which can then be acted upon by natural selection.

I'm sorry for any confusion, but "hair color" is not a term that has a medical definition in the same way that a term like "myocardial infarction" (heart attack) does. Hair color can be described in various ways, such as being a natural hair color (like blonde, brunette, red, or black) or describing a change in hair color due to factors like aging (gray or white hairs) or hair dye usage.

However, it's worth noting that changes in hair color can sometimes be associated with certain medical conditions. For example, premature graying of the hair before the age of 30 can be a feature of certain genetic disorders or vitamin B12 deficiency. Similarly, some skin conditions like alopecia areata or vitiligo can cause patchy changes in hair color. But these associations don't provide a medical definition for 'hair color'.

The optic chiasm is a structure in the brain where the optic nerves from each eye meet and cross. This allows for the integration of visual information from both eyes into the brain's visual cortex, creating a single, combined image of the visual world. The optic chiasm plays an important role in the processing of visual information and helps to facilitate depth perception and other complex visual tasks. Damage to the optic chiasm can result in various visual field deficits, such as bitemporal hemianopsia, where there is a loss of vision in the outer halves (temporal fields) of both eyes' visual fields.

The fovea centralis, also known as the macula lutea, is a small pit or depression located in the center of the retina, an light-sensitive tissue at the back of the eye. It is responsible for sharp, detailed vision (central vision) and color perception. The fovea contains only cones, the photoreceptor cells that are responsible for color vision and high visual acuity. It has a higher concentration of cones than any other area in the retina, allowing it to provide the greatest detail and color discrimination. The center of the fovea is called the foveola, which contains the highest density of cones and is avascular, meaning it lacks blood vessels to avoid interfering with the light passing through to the photoreceptor cells.

Membrane glycoproteins are proteins that contain oligosaccharide chains (glycans) covalently attached to their polypeptide backbone. They are integral components of biological membranes, spanning the lipid bilayer and playing crucial roles in various cellular processes.

The glycosylation of these proteins occurs in the endoplasmic reticulum (ER) and Golgi apparatus during protein folding and trafficking. The attached glycans can vary in structure, length, and composition, which contributes to the diversity of membrane glycoproteins.

Membrane glycoproteins can be classified into two main types based on their orientation within the lipid bilayer:

1. Type I (N-linked): These glycoproteins have a single transmembrane domain and an extracellular N-terminus, where the oligosaccharides are predominantly attached via asparagine residues (Asn-X-Ser/Thr sequon).
2. Type II (C-linked): These glycoproteins possess two transmembrane domains and an intracellular C-terminus, with the oligosaccharides linked to tryptophan residues via a mannose moiety.

Membrane glycoproteins are involved in various cellular functions, such as:

* Cell adhesion and recognition
* Receptor-mediated signal transduction
* Enzymatic catalysis
* Transport of molecules across membranes
* Cell-cell communication
* Immunological responses

Some examples of membrane glycoproteins include cell surface receptors (e.g., growth factor receptors, cytokine receptors), adhesion molecules (e.g., integrins, cadherins), and transporters (e.g., ion channels, ABC transporters).

Platelet Storage Pool Deficiency (PSPD) is a group of bleeding disorders characterized by a decrease in the number or function of secretory granules (storage pools) in platelets, which are small blood cells that play a crucial role in clotting. These granules contain various substances such as ADP (adenosine diphosphate), ATP (adenosine triphosphate), calcium ions, and serotonin, which are released during platelet activation to help promote clot formation.

In PSPD, the quantitative or qualitative deficiency of these granules leads to impaired platelet function and increased bleeding tendency. The condition can be inherited or acquired, and it is often classified based on the type of granule affected: dense granules (delta granules) or alpha granules.

Delta granule deficiency, also known as Dense Granule Deficiency (DGD), results in decreased levels of ADP, ATP, and calcium ions, while alpha granule deficiency leads to reduced levels of von Willebrand factor, fibrinogen, and other clotting factors.

Symptoms of PSPD can vary from mild to severe and may include easy bruising, prolonged bleeding after injury or surgery, nosebleeds, and gum bleeding. The diagnosis typically involves platelet function tests, electron microscopy, and genetic testing. Treatment options depend on the severity of the condition and may include desmopressin (DDAVP), platelet transfusions, or other medications to manage bleeding symptoms.

The pigment epithelium of the eye, also known as the retinal pigment epithelium (RPE), is a layer of cells located between the photoreceptor cells of the retina and the choroid, which is the vascular layer of the eye. The RPE plays a crucial role in maintaining the health and function of the photoreceptors by providing them with nutrients, removing waste products, and helping to regulate the light that enters the eye.

The RPE cells contain pigment granules that absorb excess light, preventing it from scattering within the eye and improving visual acuity. They also help to create a barrier between the retina and the choroid, which is important for maintaining the proper functioning of the photoreceptors. Additionally, the RPE plays a role in the regeneration of visual pigments in the photoreceptor cells, allowing us to see in different light conditions.

Damage to the RPE can lead to various eye diseases and conditions, including age-related macular degeneration (AMD), which is a leading cause of vision loss in older adults.

I'm sorry for any confusion, but "Guinea" is not a medical term. It is a geographical term referring to a region on the west coast of Africa, as well as the country of Equatorial Guinea and its neighboring countries. Additionally, "Guinea" can also refer to a unit of currency in Liberia.

If you have any medical concerns or questions, I would be happy to try to help answer them for you.

Visual acuity is a measure of the sharpness or clarity of vision. It is usually tested by reading an eye chart from a specific distance, such as 20 feet (6 meters). The standard eye chart used for this purpose is called the Snellen chart, which contains rows of letters that decrease in size as you read down the chart.

Visual acuity is typically expressed as a fraction, with the numerator representing the testing distance and the denominator indicating the smallest line of type that can be read clearly. For example, if a person can read the line on the eye chart that corresponds to a visual acuity of 20/20, it means they have normal vision at 20 feet. If their visual acuity is 20/40, it means they must be as close as 20 feet to see what someone with normal vision can see at 40 feet.

It's important to note that visual acuity is just one aspect of overall vision and does not necessarily reflect other important factors such as peripheral vision, depth perception, color vision, or contrast sensitivity.

Ichthyosis is a group of skin disorders that are characterized by dry, thickened, scaly skin. The name "ichthyosis" comes from the Greek word "ichthys," which means fish, as the skin can have a fish-like scale appearance. These conditions can be inherited or acquired and vary in severity.

The medical definition of ichthyosis is a heterogeneous group of genetic keratinization disorders that result in dry, thickened, and scaly skin. The condition may affect any part of the body, but it most commonly appears on the extremities, scalp, and trunk. Ichthyosis can also have associated symptoms such as redness, itching, and blistering.

The severity of ichthyosis can range from mild to severe, and some forms of the condition may be life-threatening in infancy. The exact symptoms and their severity depend on the specific type of ichthyosis a person has. Treatment for ichthyosis typically involves moisturizing the skin, avoiding irritants, and using medications to help control scaling and inflammation.

Kallmann Syndrome is a genetic condition that is characterized by hypogonadotropic hypogonadism (reduced or absent function of the gonads (ovaries or testes) due to deficient secretion of pituitary gonadotropins) and anosmia or hyposmia (reduced or absent sense of smell). It is caused by abnormal migration of neurons that produce gonadotropin-releasing hormone (GnRH) during fetal development, which results in decreased production of sex hormones and delayed or absent puberty.

Kallmann Syndrome can also be associated with other symptoms such as color vision deficiency, hearing loss, renal agenesis, and neurological defects. It is typically inherited in an autosomal dominant or X-linked recessive pattern, and diagnosis usually involves a combination of clinical evaluation, hormonal testing, and genetic analysis. Treatment may include hormone replacement therapy to induce puberty and maintain sexual function, as well as management of associated symptoms.

"Fundus Oculi" is a medical term that refers to the back part of the interior of the eye, including the optic disc, macula, fovea, retinal vasculature, and peripheral retina. It is the area where light is focused and then transmitted to the brain via the optic nerve, forming visual images. Examinations of the fundus oculi are crucial for detecting various eye conditions such as diabetic retinopathy, macular degeneration, glaucoma, and other retinal diseases. The examination is typically performed using an ophthalmoscope or a specialized camera called a retinal camera.

Prader-Willi Syndrome (PWS) is a genetic disorder that affects several parts of the body and is characterized by a range of symptoms including:

1. Developmental delays and intellectual disability.
2. Hypotonia (low muscle tone) at birth, which can lead to feeding difficulties in infancy.
3. Excessive appetite and obesity, typically beginning around age 2, due to a persistent hunger drive and decreased satiety.
4. Behavioral problems such as temper tantrums, stubbornness, and compulsive behaviors.
5. Hormonal imbalances leading to short stature, small hands and feet, incomplete sexual development, and decreased bone density.
6. Distinctive facial features including a thin upper lip, almond-shaped eyes, and a narrowed forehead.
7. Sleep disturbances such as sleep apnea or excessive daytime sleepiness.

PWS is caused by the absence of certain genetic material on chromosome 15, which results in abnormal gene function. It affects both males and females equally and has an estimated incidence of 1 in 10,000 to 30,000 live births. Early diagnosis and management can help improve outcomes for individuals with PWS.

I'm sorry for any confusion, but "Puerto Rico" is not a medical term. It is a territorial possession of the United States, located in the northeastern Caribbean Sea. It includes the main island of Puerto Rico and various smaller islands. If you have any questions about a medical topic, please provide more details so I can try to help answer your question.

A melanocortin receptor (MCR) is a type of G protein-coupled receptor that binds melanocortin peptides. The melanocortin-1 receptor (MC1R) is one of five known subtypes of MCRs (MC1R-MC5R).

The MC1R is primarily expressed in melanocytes, which are pigment-producing cells located in the skin, hair follicles, and eyes. This receptor plays a crucial role in determining the type of melanin that is produced in response to environmental stimuli such as UV radiation.

Activation of the MC1R by its endogenous ligands, including α-melanocyte-stimulating hormone (α-MSH) and adrenocorticotropic hormone (ACTH), leads to the activation of adenylate cyclase and an increase in intracellular cAMP levels. This results in the activation of protein kinase A and the phosphorylation of key transcription factors, which ultimately promote the expression of genes involved in melanin synthesis.

Mutations in the MC1R gene have been associated with various pigmentation disorders, including red hair color, fair skin, and an increased risk of developing skin cancer. Additionally, polymorphisms in the MC1R gene have been linked to an increased risk of developing other diseases such as obesity and type 2 diabetes.

Melanophores are specialized pigment-containing cells found in various organisms, including vertebrates and some invertebrates. In humans and other mammals, melanophores are primarily located within the skin's dermal layer and are part of the larger group of chromatophores.

Melanophores contain melanosomes, which are organelles that store and transport the pigment melanin. These cells play a crucial role in determining the coloration of an individual's skin, hair, and eyes by producing, storing, and distributing melanin granules within their cytoplasm.

In response to hormonal signals or neural stimulation, melanophores can undergo changes in the distribution of melanosomes, leading to variations in color intensity. This process is known as melanin dispersion or aggregation and is responsible for various physiological responses, such as skin tanning upon exposure to sunlight or the color-changing abilities observed in some animals like chameleons and cuttlefish.

It's important to note that while humans do not have the ability to change their skin color rapidly like some other animals, melanophores still play a significant role in protecting our skin from harmful ultraviolet radiation by producing melanin, which helps absorb and dissipate this energy, reducing damage to skin cells.

Sunscreening agents, also known as sunscreens or sunblocks, are substances that protect the skin from the harmful effects of ultraviolet (UV) radiation from the sun. They work by absorbing, reflecting, or scattering UV radiation, preventing it from reaching the skin and causing damage such as sunburn, premature aging, and skin cancer.

Sunscreening agents can be chemical or physical. Chemical sunscreens contain organic compounds that absorb UV radiation and convert it into heat, which is then released from the skin. Examples of chemical sunscreens include oxybenzone, avobenzone, octinoxate, and homosalate.

Physical sunscreens, on the other hand, contain inorganic compounds that reflect or scatter UV radiation away from the skin. The most common physical sunscreen agents are zinc oxide and titanium dioxide.

Sunscreening agents are usually formulated into creams, lotions, gels, sprays, or sticks and are applied to the skin before sun exposure. They should be reapplied every two hours or after swimming, sweating, or toweling off to ensure continued protection. It is recommended to use a broad-spectrum sunscreen with an SPF (Sun Protection Factor) of at least 30, which blocks both UVA and UVB radiation.

Recessive genes refer to the alleles (versions of a gene) that will only be expressed when an individual has two copies of that particular allele, one inherited from each parent. If an individual inherits one recessive allele and one dominant allele for a particular gene, the dominant allele will be expressed and the recessive allele will have no effect on the individual's phenotype (observable traits).

Recessive genes can still play a role in determining an individual's genetic makeup and can be passed down through generations even if they are not expressed. If two carriers of a recessive gene have children, there is a 25% chance that their offspring will inherit two copies of the recessive allele and exhibit the associated recessive trait.

Examples of genetic disorders caused by recessive genes include cystic fibrosis, sickle cell anemia, and albinism.

I'm sorry for any confusion, but "Zimbabwe" is not a medical term. It's a country located in the southern part of Africa. If you have any questions about medical terms or concepts, I'd be happy to help answer those for you!

Oxidoreductases are a class of enzymes that catalyze oxidation-reduction reactions, which involve the transfer of electrons from one molecule (the reductant) to another (the oxidant). These enzymes play a crucial role in various biological processes, including energy production, metabolism, and detoxification.

The oxidoreductase-catalyzed reaction typically involves the donation of electrons from a reducing agent (donor) to an oxidizing agent (acceptor), often through the transfer of hydrogen atoms or hydride ions. The enzyme itself does not undergo any permanent chemical change during this process, but rather acts as a catalyst to lower the activation energy required for the reaction to occur.

Oxidoreductases are classified and named based on the type of electron donor or acceptor involved in the reaction. For example, oxidoreductases that act on the CH-OH group of donors are called dehydrogenases, while those that act on the aldehyde or ketone groups are called oxidases. Other examples include reductases, peroxidases, and catalases.

Understanding the function and regulation of oxidoreductases is important for understanding various physiological processes and developing therapeutic strategies for diseases associated with impaired redox homeostasis, such as cancer, neurodegenerative disorders, and cardiovascular disease.

Adaptor Protein Complex (AP) beta subunits are structural proteins that play a crucial role in intracellular vesicle trafficking. They are part of the heterotetrameric AP complex, which is responsible for recognizing and binding to specific sorting signals on membrane cargo proteins, allowing for their packaging into transport vesicles.

There are four different types of AP complexes (AP-1, AP-2, AP-3, and AP-4), each with a unique set of subunits that confer specific functions. The beta subunit is a common component of all four complexes and is essential for their stability and function.

The beta subunit interacts with other subunits within the AP complex as well as with accessory proteins, such as clathrin, to form a coat around the transport vesicle. This coat helps to shape the vesicle and facilitate its movement between different cellular compartments.

Mutations in genes encoding AP beta subunits have been linked to various human diseases, including forms of hemolytic anemia, neurological disorders, and immunodeficiency.

Sunburn is a cutaneous condition characterized by redness, pain, and sometimes swelling of the skin caused by overexposure to ultraviolet (UV) radiation from the sun or other sources such as tanning beds. The skin may also blister and peel in severe cases. Sunburn is essentially a burn to the skin that can have both immediate and long-term consequences, including increased aging of the skin and an increased risk of skin cancer. It is important to protect the skin from excessive sun exposure by using sunscreen, wearing protective clothing, and seeking shade during peak sunlight hours.

Hemorrhagic disorders are medical conditions characterized by abnormal bleeding due to impaired blood clotting. This can result from deficiencies in coagulation factors, platelet dysfunction, or the use of medications that interfere with normal clotting processes. Examples include hemophilia, von Willebrand disease, and disseminated intravascular coagulation (DIC). Treatment often involves replacing the missing clotting factor or administering medications to help control bleeding.

Iris diseases refer to a variety of conditions that affect the iris, which is the colored part of the eye that regulates the amount of light reaching the retina by adjusting the size of the pupil. Some common iris diseases include:

1. Iritis: This is an inflammation of the iris and the adjacent tissues in the eye. It can cause pain, redness, photophobia (sensitivity to light), and blurred vision.
2. Aniridia: A congenital condition characterized by the absence or underdevelopment of the iris. This can lead to decreased visual acuity, sensitivity to light, and an increased risk of glaucoma.
3. Iris cysts: These are fluid-filled sacs that form on the iris. They are usually benign but can cause vision problems if they grow too large or interfere with the function of the eye.
4. Iris melanoma: A rare type of eye cancer that develops in the pigmented cells of the iris. It can cause symptoms such as blurred vision, floaters, and changes in the appearance of the iris.
5. Iridocorneal endothelial syndrome (ICE): A group of rare eye conditions that affect the cornea and the iris. They are characterized by the growth of abnormal tissue on the back surface of the cornea and can lead to vision loss.

It is important to seek medical attention if you experience any symptoms of iris diseases, as early diagnosis and treatment can help prevent complications and preserve your vision.

Ceroid is a term used in pathology to describe a type of inclusion body that can be found in various tissues and cells in the body. These inclusions are composed of a protein called alpha-synuclein that has become aggregated and tangled, as well as lipids and other substances. Ceroids are often seen in neurons, but they can also be found in other types of cells such as glial cells.

Ceroid deposits are associated with several neurodegenerative disorders, including Parkinson's disease, dementia with Lewy bodies, and multiple system atrophy. These conditions are characterized by the accumulation of abnormal protein aggregates in the brain, which can lead to neuronal dysfunction and death. The exact role that ceroids play in these diseases is not fully understood, but they are thought to contribute to the toxicity and degeneration of nerve cells.

It's worth noting that ceroid is sometimes used interchangeably with other terms such as "lipofuscin" or "age pigment," although there are some differences between these substances at a molecular level. Nonetheless, they all refer to the accumulation of lipid-rich inclusion bodies in cells and tissues over time.

Visual pathways, also known as the visual system or the optic pathway, refer to the series of specialized neurons in the nervous system that transmit visual information from the eyes to the brain. This complex network includes the retina, optic nerve, optic chiasma, optic tract, lateral geniculate nucleus, pulvinar, and the primary and secondary visual cortices located in the occipital lobe of the brain.

The process begins when light enters the eye and strikes the photoreceptor cells (rods and cones) in the retina, converting the light energy into electrical signals. These signals are then transmitted to bipolar cells and subsequently to ganglion cells, whose axons form the optic nerve. The fibers from each eye's nasal hemiretina cross at the optic chiasma, while those from the temporal hemiretina continue without crossing. This results in the formation of the optic tract, which carries visual information from both eyes to the opposite side of the brain.

The majority of fibers in the optic tract synapse with neurons in the lateral geniculate nucleus (LGN), a part of the thalamus. The LGN sends this information to the primary visual cortex, also known as V1 or Brodmann area 17, located in the occipital lobe. Here, simple features like lines and edges are initially processed. Further processing occurs in secondary (V2) and tertiary (V3-V5) visual cortices, where more complex features such as shape, motion, and depth are analyzed. Ultimately, this information is integrated to form our perception of the visual world.

"Albinism". Merriam-Webster. Retrieved January 31, 2015.. *^ a b "Leucisam and albinism". BTO.org. British Trust for Ornithology ... This albinism does not affect mortality.[77] Related pigment disorders[edit]. In some animals, albinism-like conditions may ... Albinism in molluscs has been recognized to be a hereditary phenomenon at least since 1900.[71] Albinism in molluscs can exist ... "Albinism". Encyclopædia Britannica. Retrieved January 27, 2015.. *^ a b c Binkley, S. K. "Color on, color off" (PDF). Retrieved ...
Imperfect albinism - when melanin is reduced in the eyes, skin and feathers. Partial albinism - when albinism is localized to ... Animals portal Wikimedia Commons has media related to Albinism. Albinism in humans Albinism in chickens Albino and white ... Albinism in molluscs has been recognized to be a hereditary phenomenon at least since 1900. Albinism in molluscs can exist to a ... In one study, albinism in birds has been categorised according to the extent of pigment absence. - Total albinism - a ...
Oculocutaneous albinism is a group of conditions that affect coloring (pigmentation) of the skin, hair, and eyes. Explore ... Type 3 includes a form of albinism called rufous oculocutaneous albinism, which usually affects dark-skinned people. Affected ... Genetic Testing Registry: Oculocutaneous albinism type 4 *Genetic Testing Registry: Tyrosinase-negative oculocutaneous albinism ... Oculocutaneous albinism type 4 is one of the most common types of albinism in Japan. Am J Hum Genet. 2004 Mar;74(3):466-71. doi ...
Albinism results from defective production of melanin from tyrosine through a complex pathway of metabolic reactions. ... Albinism consists of a group of inherited abnormalities of melanin synthesis and are typically characterized by a congenital ... Mutations of the P gene in oculocutaneous albinism, ocular albinism, and Prader-Willi syndrome plus albinism. N Engl J Med. ... These ocular changes are common to all types of albinism.. Classification of albinism. Traditionally, albinism has been ...
Partial albinism occurs in some animals and is much more common than true albinism. In white-tailed deer, this is sometimes ... In wildlife, albinism is a rare occurrence at birth caused by a recessive gene. The rate in wildlife is estimated from 1 in ...
... and find out how Guide Dogs can help families living with ocular albinism. ... Living with ocular albinism? Get tips and support, ... Support for ocular albinism. Children with ocular albinism are ... Unlike oculocutaneous albinism (OCA), the ocular form of albinism doesnt cause pale skin and white hair; it just affects the ... Different types of albinism affect people in different ways. The signs and symptoms of ocular albinism typically include poor ...
PRNewswire-PRWeb/ -- On October 1st, six women with albinism will begin to scale Mount Kilimanjaro. They will summit the ... In Africa it is estimated that 1 in every 5,000 have albinism with the prevalence of albinism in Tanzania estimated to be 1 in ... Ikponwosa Ero, first UN Independent Expert on the enjoyment of human rights by persons with albinism says: "Women with albinism ... The six women on the Climb for Albinism team are: Jane Waithera - Kenya Mariam Staford - Tanzania Maah Keita - Senegal Dr. ...
Albinism is a condition wherein the skin, eyes, and hair of a person is afflicted by a partial or complete loss of pigmentation ... What is Albinism?. Albinism is a condition wherein the skin, eyes, and hair of a person is afflicted by a partial or complete ... The second type of albinism (Type 2) a more severe form of albinism and it affects not only the hair and skin but also a ... There are different types of albinism:. Oculocutaneous albinism (OCA) is the most common form of the condition and affects the ...
... a person with albinism who founded the Albinism Society of South Africa, points out that when a baby is born with albinism, the ... Albinism inside out. 12 November 2019. - Beth Amato People living with albinism endure parochial prejudice and medical scrutiny ... To "prevent albinism", people may walk past a person with albinism and spit on them. ... British artist and academic Professor Raimi Gbadamosi, who lives with albinism, intended to contribute to this de-codification ...
National Organization for Albinism and Hypopigmentation. Where people with albinism and their families can find acceptance, ... The National Organization of Albinism and Hypopigmentation (NOAH) provides the www.albinism.org website as a public service and ... The National Organization of Albinism and Hypopigmentation (NOAH) 2021. All Rights Reserved ... www.albinism.org and any listed author for private, stand alone non-commercial use or distribution. Commercial use and ...
... the first person with albinism to appear on the cover of Vogue magazine. ... self-awareness and albinism for the National Organization for Albinism and Hypopigmentation (NOAH) this Sunday, May 2. The ... Miller, an albinism advocate, has presented a TEDx talk on the topic and recently published the book Deconstructing the Albino ... the first person with albinism to appear on the cover of Vogue magazine. ...
... and four of them have albinism; having children with disabilities can be challenging, but the Grabowskis are considering ... Stream Born With Albinism (2021) online with DIRECTV Jon and Liz have five adopted children from China, ... Watch Born With Albinism online.. Jon and Liz have five adopted children from China, and four of them have albinism; having ...
In the East African country, a child born with albinism starts life with a price tag on their head. ... Four Tanzanian children with albinism arrived in the United States on Saturday for medical treatment. ... The children lost their limbs in brutal attacks by human poachers for their albinism. ...
National Organization for Albinism and Hypopigmentation. Where people with albinism and their families can find acceptance, ... NOAH is involved in the Global Albinism Alliance and supports its vision of a world where persons with albinism enjoy all of ... NOAH strongly encourages the efforts of individuals and organizations who serve the needs of people with albinism around the ... NOAH is willing to freely share information, publications and materials with anyone working on behalf of the worldwide albinism ...
A teenage boy with albinism from Malawi who went missing on 24 April has been found dead in Mozambique with his hands and feet ... Urgent Action update: Persons with Albinism at risk of further attacks in Malawi ...
The one statistic that remains in my mind is that 98% of those with albinism in Africa die before the age of 40, often from ... I hope that Europe and the world do not close their eyes and look away, but react firmly to protect people with albinism and ... The situation of persons with albinism in Africa, notably in Malawi. Video of the speeches. ... Their bones are sold for USD 75 000 - can you imagine this! It is unacceptable that people with albinism are hunted and killed ...
Violence and discrimination against people with albinism in Malawi which revealed that at least 18 people with albinism had ... Malawian officials must live up to their promises to end violence against people with albinism and tackle discrimination ... "Recognition by the Malawian authorities at the highest level that people with albinism not only experience daily discrimination ... Rights of people with albinism must be guaranteed in Malawi June 13, 2016 ...
The Minister of Homeland Securitys comments that attacks on persons with albinism have not reached crisis levels will only ... Persons with albinism are targeted for their body parts in the belief that they contain magical powers. The current population ... People will albinism cannot continue to live in fear in their own country.". Background. Amnesty International has documented ... "For years, people with albinism have been living at the mercy of criminal gangs who target them for their body parts. The ...
AITA for humiliating my aunt in front of my family after what she assumed about albinism ? I (21M) was invited to a family ... Nta alright so lets take out the fact your bf has albinism, even if your bf had an std that she could somehow tell by looking ... AITA for humiliating my aunt in front of my family after what she assumed about albinism ?. I (21M) was invited to a family ... I told her that my boyfriend isnt possessed and that he only looks like that cause of he has albinism. She then asked me Oh, ...
This content is restricted to members - please login here or purchase a membership.. ...
In doing so, the research team also discovered the gene responsible for albinism in bison. ... starting with the mutation responsible for albinism. Albinism, a rare condition characterized by a lack of pigment in an ... "We knew albinism was an inherited recessive trait, but we didnt know which gene was responsible," Stroupe said. "So, we ... To prove the utility of the new genome, the team set out to discover which gene mutation was responsible for albinism in bison ...
Local bank supports albinism sufferers, donates 250 sun protection hats. Posted by The Staff Reporter , Jul 3, 2019 , Health ... "I would like to take this opportunity to thank FNB for their very generous donation of 250 hats for our children with albinism ... "Namibia has the highest per capita number of persons with albinism in the SADC Region, if not world-wide. Cultural ... The Albino Care Support in Namibia of Albinism Sufferers Requiring Assistance (SINASRA) received 250 sun protection hats valued ...
Male Model Shaun Ross Gives a TED Talk on Beauty Standards and Albinism. Shaun Rosss path to becoming the most famous albino ... Male Model Shaun Ross Gives a TED Talk on Beauty Standards and Albinism ...
Frances Cress-Welsing Speaks: White Supremacy and Genetic Albinism. July 19, 2010. Don Jaide Leave a comment ...
... could bring about positive change in parts of Africa where people with albinism are treated with disdain. ... Andreia Solange Sicato Muhitu thinks the Mr and Miss Albinism Southern Africa pageant, where she was crowned, ...
... albinism was documented only in the North American species Erethizon dorsatum . Here we report the first albino record from the ... Aberrant pelage color patterns such as albinism have been reported in some mammal groups including rodents, but in spite of the ... A case of albinism in the five-striped palm squirrel Funambulus pennanti Wrouohton. Bull. Zool. Surv. India 6: 321-322.Search ... A case of albinism in Rattus blanfordi (Thomas, 1881) (Rodentia: Mutidae). J. Bombay Nal. Bist. Soc. 64: 554.Search in Google ...
and Miss Albinism Southern Africa pageant. The 28-year-old Angolan model has competed in beauty pageants in her home country ... Winner of albinism pageant says Zimbabwe event made her feel beautiful and provided sense of purpose by: FARAI MUTSAKA, ... Albinism is more common in sub-Saharan Africa, where it affects about 1 in 5,000 people. The prevalence can reach 1 in 1,000 in ... and Miss Albinism Southern Africa pageant. The 28-year-old Angolan model has competed in beauty pageants in her home country ...
Winner of albinism pageant says Zimbabwe event made her feel beautiful and provided sense of purpose by: FARAI MUTSAKA, ... Albinism is more common in sub-Saharan Africa, where it affects about 1 in 5,000 people. The prevalence can reach 1 in 1,000 in ... and Miss Albinism Southern Africa pageant. The 28-year-old Angolan model has competed in beauty pageants in her home country ... "People living with albinism have dreams, they have talent, and they are amazing people. But they will stay in the background if ...
Can You See Us? is the story of a boy growing up with albinism in Zambia. His father spurns him, his peers attack him. Its ... "Albinism is never something we even talk about at home because its not an issue," he explains. "I would like to reach a place ... Hes a singer, a cop and the inspiration for a Netflix film about albinism in Africa ... He also has albinism, a pigmentation condition that has shaped his life. His story inspired the film "Can You See Us?" - now ...
and Miss Albinism Southern Africa pageant. The 28-year-old Angolan model has competed in beauty pageants in her home country ... Winner of albinism pageant says Zimbabwe event made her feel beautiful and provided sense of purpose by: FARAI MUTSAKA, ... Albinism is more common in sub-Saharan Africa, where it affects about 1 in 5,000 people. The prevalence can reach 1 in 1,000 in ... and Miss Albinism Southern Africa pageant. The 28-year-old Angolan model has competed in beauty pageants in her home country ...
  • Oculocutaneous albinism (OCA) is a clearly defined set of seven types of genetic mutations which reduce or completely prevent the synthesis of eumelanin or pheomelanin, resulting in reduced pigmentation. (wikipedia.org)
  • Type I oculocutaneous albinism (OCA1a) is the form most commonly recognised as 'albino' as this results in a complete absence of melanin in the skin, hair/fur/feathers, and pink pupils, however this has led many to assume that all albinos are pure white with pink pupils, which is not the case. (wikipedia.org)
  • Oculocutaneous albinism is a group of conditions that affect coloring (pigmentation) of the skin, hair, and eyes. (medlineplus.gov)
  • Researchers have identified multiple types of oculocutaneous albinism, which are distinguished by their specific skin, hair, and eye color changes and by their genetic cause. (medlineplus.gov)
  • Oculocutaneous albinism type 1 is characterized by white hair, very pale skin, and light-colored irises. (medlineplus.gov)
  • Type 3 includes a form of albinism called rufous oculocutaneous albinism, which usually affects dark-skinned people. (medlineplus.gov)
  • Type 3 is often associated with milder vision abnormalities than the other forms of oculocutaneous albinism. (medlineplus.gov)
  • Overall, an estimated 1 in 20,000 people worldwide are born with oculocutaneous albinism. (medlineplus.gov)
  • Type 3, specifically rufous oculocutaneous albinism, has been described primarily in people from southern Africa. (medlineplus.gov)
  • Oculocutaneous albinism can result from variants (also known as mutations) in several genes, including TYR , OCA2 , TYRP1 , and SLC45A2 . (medlineplus.gov)
  • A lack of melanin in the retina leads to the vision problems characteristic of oculocutaneous albinism. (medlineplus.gov)
  • Alterations in the MC1R gene can change the appearance of people with oculocutaneous albinism type 2. (medlineplus.gov)
  • Some individuals with oculocutaneous albinism do not have variants in any of the known genes. (medlineplus.gov)
  • Traditionally, albinism has been classified according to clinical phenotype, and the 2 main categories are oculocutaneous albinism (OCA) and ocular albinism (OA). (medscape.com)
  • Oculocutaneous albinism (OCA) is the most common form of the condition and affects the hair and skin of a person. (home-remedies-for-you.com)
  • Visual deficits in Nepalese patients with oculocutaneous albinism. (auckland.ac.nz)
  • ALBINISM OCULOCUTANEOUS when there is little or no melanin in the skin, hair and eyes. (albinismo.it)
  • Oculocutaneous Albinism (OCA) includes four types. (albinismo.it)
  • Snowflake was a western lowland gorilla with non-syndromic oculocutaneous albinism. (wikipedia.org)
  • This article provides a historical background on oculocutaneous albinism (OCA) in southern Africa and presents relevant information from the literature regarding epidemiology , genetics and genetic counselling, health , psychosocial and cultural issues, and medical care . (bvsalud.org)
  • Hermansky-Pudlak syndrome (HPS) is a rare group of autosomal recessive diseases whose manifestations include oculocutaneous albinism , bleeding diathesis, and lysosomal ceroid accumulation. (medscape.com)
  • Among the causes of aut ism, there are associations with genetic and congenital conditions such as: lactic acidosis, oculocutaneous albinism, change in purines, hearing impairments, progressive muscular dystrophy, tuberous sclerosis and phenylketonuria. (bvsalud.org)
  • In Africa it is estimated that 1 in every 5,000 have albinism with the prevalence of albinism in Tanzania estimated to be 1 in 1,400. (prweb.com)
  • Tragically, due to myth and superstition, persons with albinism living in sub-Saharan Africa are being persecuted daily. (prweb.com)
  • I have a dream one day that persons with albinism all across Africa will take their rightful place in every level of society and that the days of discrimination will be a faint memory. (prweb.com)
  • Seminar speaker Nomasonto Mazibuko , a person with albinism who founded the Albinism Society of South Africa, points out that when a baby is born with albinism, the midwife often asks the mother "What did you do to have this kind of baby? (wits.ac.za)
  • While living with albinism certainly has its medical challenges - indeed, the condition has recently been deemed a disability in South Africa so that critical accommodations are made - Gbadamosi insists that those living with albinism should not be seen from the outside in. (wits.ac.za)
  • The one statistic that remains in my mind is that 98% of those with albinism in Africa die before the age of 40, often from terrible skin cancers, but also from acts of violence against albinos, which are unfortunately only too common. (europa.eu)
  • Recognition by the Malawian authorities at the highest level that people with albinism not only experience daily discrimination but also live in constant fear of attacks is an important step in addressing the problem," said Deprose Muchena, Amnesty International's Regional Director for Southern Africa. (amnestyusa.org)
  • The latest comments from Minister Nicholas Dausi are yet another indication that persons with albinism in Malawi are on their own when it comes to their safety and security," said Muleya Mwananyanda, Amnesty International's Deputy Director for Southern Africa. (amnesty.ca)
  • In this photo supplied by pageant organiser John Karimazonde of the Mr and Miss Albinism Southern Africa Pageant, contestants take part in the pageant at the Harare International Conference Centre, Saturday Oct. 14, 2023. (wspa.com)
  • HARARE, Zimbabwe (AP) - A glittering crown on her head and a bouquet of flowers in her hands, Andreia Solange Sicato Muhitu beamed at being named the co-winner of the the inaugural Mr. and Miss Albinism Southern Africa pageant. (wspa.com)
  • Although traditional beauty pageants have come under criticism for objectifying women's bodies, Muhitu thinks the Oct. 14 event where she was crowned could bring about positive change in parts of Africa where people with albinism are treated with disdain, ridicule and even violence driven by dangerously misguided superstitions. (wspa.com)
  • Albinism is more common in sub-Saharan Africa, where it affects about 1 in 5,000 people. (wrbl.com)
  • Yet in many parts of the globe, and particularly in Africa, murder, violence and attacks and violations of the rights of persons with albinism persist. (southernafricalitigationcentre.org)
  • Relatively, recently, the body of a man with albinism was reportedly stolen from his grave two days after burial in South Africa. (southernafricalitigationcentre.org)
  • In May the Pan-African Parliament passed an historic resolution strongly condemning human rights violations against persons with albinism and endorsing the Regional Action Plan on Albinism in Africa (2017-2021) . (southernafricalitigationcentre.org)
  • In accordance with the Regional Action Plan, we call on African States to urgently implement the Regional Action Plan on Albinism in Africa. (southernafricalitigationcentre.org)
  • Join the albinism movement in Africa! (africaalbinismnetwork.org)
  • In South Africa albinism is considered a disability. (immploy.com)
  • For further information on skin cancer revention and albinism, read about the programme run by the NGO, Standing Voice, in Tanzania - a blueprint to be replicated and expanded across Sub-Saharan Africa. (albinism-in-africa.com)
  • Please see our List of Resources , a list of publications on albinism in Africa. (albinism-in-africa.com)
  • People born with Albinism have not been treated with dignity in countries in southern and eastern Africa, like Tanzania, Malawi, Burundi and Mozambique. (nigeriafilms.com)
  • In southern Africa albinism is common, about 1 in 4000 people are affected, but it remains a poorly understood condition surrounded by myths and superstition . (bvsalud.org)
  • A person with albinism is often referred to as a an 'albino' and while some forms of the condition can be life threatening, most people with albinism can live a normal life. (home-remedies-for-you.com)
  • To "prevent albinism", people may walk past a person with albinism and spit on them. (wits.ac.za)
  • The cultivated conversation will focus on The Beauty of Inclusion , a speech by South African model, activist and lawyer Thando Hopa, the first person with albinism to appear on the cover of Vogue magazine. (samford.edu)
  • On the night of 31 December, eight people broke into Yasin Phiri's house, a 54-year-old person with albinism, while he was sleeping in Kande, Nkhata Bay. (amnesty.ca)
  • The superstitions include the belief that having sex with a person with albinism can cure HIV or that their skin, hair, feet, hands, eyes, genitals or breasts have supernatural powers to bring good luck or boost the effectiveness of witchcraft potions, according to the U.N. and rights activists. (wspa.com)
  • The grave of Nyama James, born in 1927 who was a person with albinism was found tampered with on September 9, this year. (nyasatimes.com)
  • The most fundamental human need is to be loved by another person - to be known and to be accepted, which is poignantly true for the person with albinism who may be immediately noticed by many but truly seen by few. (immploy.com)
  • As shown in Table 2, two major disorders exist in this category, ocular albinism 1 (OA 1) and autosomal recessive ocular albinism (AROA). (medscape.com)
  • Ocular albinism is a rare condition that causes eye problems due to a lack of pigment in the eye. (guidedogs.org.uk)
  • Ocular albinism is a genetic condition that can't be cured, but there are many ways people with the condition can make the most of their vision. (guidedogs.org.uk)
  • Children with ocular albinism will benefit from early support to make the most of their vision and manage symptoms such as nystagmus and strabismus. (guidedogs.org.uk)
  • Although ocular albinism can affect daily life, it won't stop your child from living an independent life and doing things they enjoy. (guidedogs.org.uk)
  • If your child has ocular albinism, they will have regular appointments with their ophthalmologist, a specialist eye doctor. (guidedogs.org.uk)
  • Regular eye exams can detect eye conditions often associated with ocular albinism, including nystagmus , strabismus (squint) and amblyopia (lazy eye) . (guidedogs.org.uk)
  • Although ocular albinism can't be cured, there are many ways to help your child manage their symptoms. (guidedogs.org.uk)
  • If there is a history of ocular albinism, you and your family members may be referred for genetic testing. (guidedogs.org.uk)
  • Can you drive with ocular albinism? (guidedogs.org.uk)
  • Ocular albinism is one of the eye conditions you must tell the DVLA you have since it causes poor visual acuity and vision problems, including nystagmus. (guidedogs.org.uk)
  • Some people with ocular albinism also have difficulty with depth perception, making driving difficult. (guidedogs.org.uk)
  • Can you work with ocular albinism? (guidedogs.org.uk)
  • The type of support you need will depend on how severe your visual impairment is due to ocular albinism. (guidedogs.org.uk)
  • If your child has ocular albinism, try speaking to their specialist for advice before they start thinking about career choices. (guidedogs.org.uk)
  • Children with ocular albinism are typically diagnosed at a young age. (guidedogs.org.uk)
  • Other types of albinism include Ocular Albinism type 1, Waardenberg syndrome, Chediak-Higashi syndrome, Tuberous sclerosis and Hermansky-Pudlak Syndrome or HPS. (home-remedies-for-you.com)
  • A type of albinism, called ocular albinism, affects the eyes but usually not the skin and hair. (msdmanuals.com)
  • Ocular Albinism (OA) includes one type. (albinismo.it)
  • The second type of albinism (Type 2) a more severe form of albinism and it affects not only the hair and skin but also a person's eyes. (home-remedies-for-you.com)
  • Another type of albinism occurs with bleeding disorders. (msdmanuals.com)
  • Hermansky-Pudlak syndrome is a tyrosinase-positive type of albinism. (medscape.com)
  • Four Tanzanian children with albinism arrived in the United States on Saturday for medical treatment. (africanews.com)
  • I would like to take this opportunity to thank FNB for their very generous donation of 250 hats for our children with albinism," he added. (economist.com.na)
  • A mother to three children with albinism from the Democratic Republic of Congo (DRC) was forced to flee to neighbouring Uganda fearing that her children could be targeted for beliefs that albino body parts bring luck and power. (southernafricalitigationcentre.org)
  • The prevalence of autism among children with albinism. (bvsalud.org)
  • The aim of our study was to investigate the prevalence of autism among children with albinism compared to the prevalence of ASD in children with visual impairment secondary to other causes. (bvsalud.org)
  • Retrospective study of children with albinism from January 2015 to December 2020. (bvsalud.org)
  • Albinism is a condition wherein the skin, eyes, and hair of a person is afflicted by a partial or complete loss of pigmentation. (home-remedies-for-you.com)
  • He also has albinism, a pigmentation condition that has shaped his life. (ksjd.org)
  • Albinism causes a melanin deficiency that reduces pigmentation in the eye. (albinism-in-africa.com)
  • People with albinism have a complex visual impairment, with altered retinal development and nerve connections to the eye. (albinism-in-africa.com)
  • A control group was created with children with early onset visual impairment of similar visual range and age, secondary to diagnosis other than albinism . (bvsalud.org)
  • The prevalence of ASD in patients with albinism was 1 in 28, while in children with visual impairment from other causes was 1 in 102. (bvsalud.org)
  • NAIROBI, Kenya , Sept. 27, 2018 /PRNewswire-PRWeb/ -- On October 1st , six women with albinism will begin to scale Mount Kilimanjaro. (prweb.com)
  • Malawi is experiencing a resurgence of attacks against persons with albinism, with two fatalities and three abductions since 31 December 2018. (amnesty.ca)
  • In 2018 many positive steps were taken regionally to advance the rights of persons with albinism. (southernafricalitigationcentre.org)
  • This is the sad reality, and everybody has heard about people with albinism being kidnapped or found dead with parts of their bodies missing" (Daily Sun: 2018). (immploy.com)
  • All too often persons with albinism are portrayed as victims. (prweb.com)
  • It's endorsed by Under The Same Sun, A Canada -based and U.S.-registered NGO committed to ending discrimination and violence against persons with albinism. (prweb.com)
  • Ms. Ikponwosa Ero, first UN Independent Expert on the enjoyment of human rights by persons with albinism says: "Women with albinism often face multiple discrimination. (prweb.com)
  • NOAH is involved in the Global Albinism Alliance and supports its vision of a world where persons with albinism enjoy all of their human rights. (albinism.org)
  • The Minister of Homeland Security's comments that attacks on persons with albinism have not reached crisis levels will only embolden those perpetrating the assaults and are a disturbing reminder of the government's inaction on the issue, Amnesty International said today. (amnesty.ca)
  • Amnesty International has documented an unprecedented wave of killings and other human rights abuses including abductions and robberies against persons with albinism in Malawi since November 2014. (amnesty.ca)
  • Persons with albinism are targeted for their body parts in the belief that they contain magical powers. (amnesty.ca)
  • The current population of people with albinism in Malawi is estimated at between 7,000 and 10,000, representing a ratio of 1 in every 1,800 persons. (amnesty.ca)
  • Namibia has the highest per capita number of persons with albinism in the SADC Region, if not world-wide. (economist.com.na)
  • This year the International Albinism Awareness day is commemorated under the theme 'shining our light to the world' , providing an opportunity to reflect on progress and challenges facing persons with albinism. (southernafricalitigationcentre.org)
  • For example, a number of countries have taken steps to improve data on the lived realities of persons with albinism. (southernafricalitigationcentre.org)
  • Sierra Leone is conducting research to identify major challenges faced by persons with albinism. (southernafricalitigationcentre.org)
  • Moreover, a survey on the socio-economic and demographic status of persons with albinism seeking to understand the living conditions of persons with albinism was launched in Nigeria . (southernafricalitigationcentre.org)
  • The United Nations Expert on Albinism opened a platform for persons with albinism to share their work and art through social media campaigns and exhibitions. (southernafricalitigationcentre.org)
  • In Tanzania, the Josphat Tornner Foundation launched a campaign to debunk harmful myths about persons with albinism though football matches. (southernafricalitigationcentre.org)
  • These achievements shine a light on the creativity and dynamism of activists regionally working to end discrimination and violence against persons with albinism. (southernafricalitigationcentre.org)
  • The murder of Macdonald Masambuka who disappeared at Mbawa Trading Centre in Nakawa village, northern Malawi, put the country in the spotlight for attacks and killings against persons with albinism. (southernafricalitigationcentre.org)
  • The Plan, also endorsed by the African Commission on Human and Peoples' Rights in 2017, adopts a multi-sectoral approach involving key actors and highlights areas needing intervention to address abuses committed against persons with albinism. (southernafricalitigationcentre.org)
  • The Pan-African Parliament called on African Union Member States to take all measures necessary to adopt and implement the Regional Action Plan, in order to take steps to ensure the effective protection and promotion of the rights of persons with albinism and members of their families, including prosecution and punishment for cross-border crimes. (southernafricalitigationcentre.org)
  • On this International Albinism Awareness Day, we celebrate the achievements of persons with albinism who are shining a light on the human rights barriers faced by persons with albinism and in uniting actors across the region behind a concrete strategy to achieve meaningful change. (southernafricalitigationcentre.org)
  • States should coordinate regionally and work with persons with albinism and human rights activists nationally to prevent rights violations, protect persons with albinism from violence and rights violations, pursue accountability for attacks, violence and displacement of persons with albinism regionally, and to enact laws and measures to realise equality for persons with albinism. (southernafricalitigationcentre.org)
  • In its resolution 24/33, the Human Rights Council requested the Advisory Committee to prepare a study on the human rights of persons living with albinism and to present a report thereon to the Council at its 28th session. (immploy.com)
  • This would, therefore, extend to persons with albinism. (immploy.com)
  • Below you will find some of the common health issues associated with persons with albinism and some useful links to further resources. (albinism-in-africa.com)
  • Persons with albinism can usually distinguish colours, but their vision will typically lack precision or detail. (albinism-in-africa.com)
  • Officers from the Department of Social Development ,, Ministry of Labour, Social Security and Services and the National Council For Persons With Disabilities pose for a photo with a possible beneficiary of the National Persons with Albinism Support Programme in Khayega Market, Shinyalu, Kakamega during targeting exercise in June 2013. (go.ke)
  • The National Organization of Albinism and Hypopigmentation (NOAH) provides the www.albinism.org website as a public service and for informational purposes only. (albinism.org)
  • Samford University communication studies professor Niya Pickett Miller will lead a complex discussion about racial identity, self-awareness and albinism for the National Organization for Albinism and Hypopigmentation (NOAH) this Sunday, May 2. (samford.edu)
  • The National Organisation for Albinism and Hypopigmentation (NOAH) said that the above explains why it feels like a hidden condition despite its obviousness. (immploy.com)
  • Provided by NOAH, the National Organization for Albinism and Hypopigmentation. (albinism-in-africa.com)
  • Albinism is inherited in an autosomal recessive pattern whereby an individual receives copies of a gene from both the father and the mother to develop albinism. (wits.ac.za)
  • Malawian officials must live up to their promises to end violence against people with albinism and tackle discrimination against this group, Amnesty International said on International Albinism Awareness Day. (amnestyusa.org)
  • The Albino Care Support in Namibia of Albinism Sufferers Requiring Assistance (SINASRA) received 250 sun protection hats valued at N$21,750 from FNB Namibia this week in commemoration of International Albinism Awareness Day. (economist.com.na)
  • On 13 June, every year the world commemorates the International Albinism Awareness Day. (southernafricalitigationcentre.org)
  • People living with albinism endure parochial prejudice and medical scrutiny but their humanity is no less definitive than that of any other along the continuum. (wits.ac.za)
  • There are no "albinos", just people living with a hereditary condition that causes albinism," he says. (wits.ac.za)
  • The desire to box people with albinism is linked to the fanatical historical pursuit of racial purity and an eradication of what was deemed to be abnormal … We know now that there is no such thing as a stable racial and sexual body," added Burns. (wits.ac.za)
  • Where people with albinism and their families can find acceptance, support and fellowship. (albinism.org)
  • There are currently over 200 organizations and associations throughout the world that serve people with albinism. (albinism.org)
  • NOAH strongly encourages the efforts of individuals and organizations who serve the needs of people with albinism around the world. (albinism.org)
  • NOAH regrets that it is unable to provide financial assistance, scholarships or any form of direct support to people with albinism living outside of the United States and Canada. (albinism.org)
  • During a series of meetings with senior government officials, including President Arthur Peter Mutharika on June 7, Amnesty International secured commitments to not only address the spate of killings of people with albinism but also to tackle the root causes of discrimination. (amnestyusa.org)
  • At the meeting, a series of commitments were made including reviewing government's policies and establishing the root causes of the crimes against people with albinism. (amnestyusa.org)
  • On June 7, Amnesty International launched a report " We are not animals to be hunted or sold": Violence and discrimination against people with albinism in Malawi which revealed that at least 18 people with albinism had been killed since November 2014. (amnestyusa.org)
  • For years, people with albinism have been living at the mercy of criminal gangs who target them for their body parts. (amnesty.ca)
  • The authorities must promptly, thoroughly and effectively investigate the recent attacks against people with albinism and ensure that suspected perpetrators are brought to justice for these gruesome attacks in fair trials. (amnesty.ca)
  • People will albinism cannot continue to live in fear in their own country. (amnesty.ca)
  • But none made her feel more beautiful or purposeful as the pageant for people with albinism that was held this month in Zimbabwe's capital, Harare. (wspa.com)
  • This crown gives me the opportunity to change the lives of people living with albinism in ways I never imagined, not just in my country, but in the entire region. (wspa.com)
  • Body parts of people with albinism are believed to have powers, to make wealth, to cure diseases," says Chiti. (ksjd.org)
  • And because of that, many people with albinism are hunted and killed. (ksjd.org)
  • The president] is looking at strengthening the laws in place around the attacks on people with albinism," says Thompson. (ksjd.org)
  • So when they see [a person who's albino] in the streets, it's no longer a strange thing because we have people with albinism in the limelight. (ksjd.org)
  • He's also become a full-time police commissioner, in part to help crack down on attacks that people with albinism face. (ksjd.org)
  • So a lack of melanin is one of several problems that affect vision in people with albinism. (fightforsight.org.uk)
  • Having a test like this could allow researchers to start developing targeted treatment to improve vision for people with albinism. (fightforsight.org.uk)
  • Albinism is extremely rare and is believed to affect only one in 17,000 people. (9news.com.au)
  • About 1 in every 20,000 people in the world is affected by albinism. (nyxt.nyc)
  • It can affect people of all races, and there are different kinds of albinism. (immploy.com)
  • Except for eye problems, most people with albinism are just as healthy as anyone else and in very rare cases a person's albinism is part of another condition that involves other health problems. (immploy.com)
  • People with these types of albinism can have health complications such as bleeding, lung, bowel, and immune system problems. (immploy.com)
  • PWA is based on the belief that certain body parts of people with albinism can transmit magical powers. (immploy.com)
  • Maxwell Thabethe, the chairperson of the Kwa-Zulu Natal Albinism Society, declared that the issue for people with albinism is their safety and continued by stating, "It is known that people with albinism are fearing for their lives as they are hunted like wild animals. (immploy.com)
  • In some areas, including Namibia, people living with albinism are forced to hide out of fear of being killed and their body parts used in muti rituals. (immploy.com)
  • People with albinism are born with this condition because of a genetic mutation. (healthline.com)
  • Without the protective pigment melanin, people with albinism are highly vulnerable to skin cancer. (albinism-in-africa.com)
  • Standing Voice has a network of clinics delivering low vision care and devices to people with albinism across Tanzania. (albinism-in-africa.com)
  • These bulletins may be useful in discussions with educators, doctors, childcare providers, or other people who may need a little more information about albinism. (albinism-in-africa.com)
  • There is no cure, but people with albinism should protect themselves from sunlight to prevent sunburn and reduce risk of skin cancer. (msdmanuals.com)
  • People who have less typical types of albinism may have some color to their skin, their hair may be somewhat red, and/or their eyes may be blue or brown. (msdmanuals.com)
  • In Italy on 60.626.442 about 3900 people have one of the types of albinism. (albinismo.it)
  • It occurs in every population with varying frequency, and narratives of people with albinism have been recorded since 200 BC. (bvsalud.org)
  • In addition, widespread public awareness programs are required to increase the knowledge of the genetic causes of OCA and of the nature of genetic counselling, to address the negative attitudes in the community , to reduce the marginalization and stigmatization of people with albinism and to improve their quality of life . (bvsalud.org)
  • Strategic Actions of Health Care for People with Albinism. (bvsalud.org)
  • Examples of albino laboratory mammals Albinism is the congenital absence of melanin in an animal or plant resulting in white hair, feathers, scales and skin and reddish pink or blue eyes. (wikipedia.org)
  • Albinism consists of a group of inherited abnormalities of melanin synthesis and are typically characterized by a congenital reduction or absence of melanin pigment. (medscape.com)
  • Chiti was born with albinism, a congenital condition of having no pigment in the skin or hair, which appear white. (ksjd.org)
  • Two Geelong girls with albinism are using the power of social media to raise awareness of the little-known congenital disorder. (9news.com.au)
  • She and other pageant participants talked about rejection by families and fathers who denied paternity once they realized a child had albinism. (wspa.com)
  • the Kenyan Albinism Society organized the country's first Mr and Miss Albinism pageant. (nigeriafilms.com)
  • It is a common misconception that all albino animals have characteristic pink or red eyes (resulting from the lack of pigment in the iris allowing the blood vessels of the retina to be visible), however this is not the case for some forms of albinism. (wikipedia.org)
  • The ophthalmologist plays an important role in detecting albinism because most forms of albinism present with ocular features as the primary morbidity. (medscape.com)
  • A mixture of folklore and belief systems that openly stigmatizes the condition by association with omens and bad luck versus ideas of the magical healing powers of dismembered limbs has resulted in an extremely dangerous and hostile environment for those poor individuals with albinism. (europa.eu)
  • Significant improvement in visual acuity following optical correction serves as an impetus to the reduction of visual disabilities in individuals with albinism. (auckland.ac.nz)
  • Albinism is characterised by the partial or complete absence of pigment in the skin, hair and eyes. (9news.com.au)
  • Albinism is a genetic condition that affects the pigment in the skin, eyes and hair. (immploy.com)
  • Please report any broken links, incorrect information, or inappropriate content within the website or hyperlinks to NOAH at [email protected] . (albinism.org)
  • No part of this website or any of its contents may be reproduced, copied, modified or adapted, without prior written consent of NOAH, except a private party may quote extracts from the website with attribution to NOAH, www.albinism.org and any listed author for private, stand alone non-commercial use or distribution. (albinism.org)
  • NOAH is willing to freely share information, publications and materials with anyone working on behalf of the worldwide albinism community. (albinism.org)
  • Doctors usually diagnose albinism by examining the skin and eyes. (msdmanuals.com)
  • Partial albinism occurs in some animals and is much more common than true albinism. (purdue.edu)
  • Where albinism occurs, mythologies include the mother being touched by an "albino", having been unfaithful, or the result of a curse. (wits.ac.za)
  • The phenotypic heterogeneity of albinism is due to the different gene mutations affecting various points along the melanin pathway, resulting in varying degrees of decreased melanin production. (medscape.com)
  • In wildlife, albinism is a rare occurrence at birth caused by a recessive gene. (purdue.edu)
  • Researchers at Texas A&M University's School of Veterinary Medicine and Biomedical Sciences recently the discovered the gene responsible for albinism in bison. (phys.org)
  • In doing so, the research team also discovered the gene responsible for albinism in bison. (phys.org)
  • To prove the utility of the new genome, the team set out to discover which gene mutation was responsible for albinism in bison and to create a genetic test that could be used to identify carriers of that mutation. (phys.org)
  • We knew albinism was an inherited recessive trait, but we didn't know which gene was responsible," Stroupe said. (phys.org)
  • If both parents carry the recessive albinism gene, there is a one in four chance that the child will present with the condition. (9news.com.au)
  • The same study revealed that his albinism was caused by a mutation of the SLC45A2 gene. (wikipedia.org)
  • Snowflake received the recessive gene from both parents, causing his albinism. (wikipedia.org)
  • Albinism is characterised by little or no melanin production. (immploy.com)
  • The children lost their limbs in brutal attacks by human poachers for their albinism. (africanews.com)
  • Mazibuko has worked closely with hospitals and communities to reduce the stigma around albinism. (wits.ac.za)
  • It has been claimed by some, e.g. that albinism can occur for a number of reasons aside from inheritance, including genetic mutations, diet, living conditions, age, disease, or injury. (wikipedia.org)
  • 1993. Inheritance of albinism in the meadow vole ( Microtus pennsylvanicus ). (degruyter.com)
  • For the medical condition in humans, see Albinism in humans . (wikipedia.org)
  • OCA can be further categorized into Type 1 albinism and Type 2 albinism depending on the type of genetic defect causing the condition. (home-remedies-for-you.com)
  • Albinism is a hereditary condition whereby little to no melanin is produced. (wits.ac.za)
  • While Powder treats albinism glibly, those living with this condition endure people's precarious belief systems - in some parts of the world, those living with albinism are hunted and murdered for their body parts, seen as an HIV cure and raped, or something to be solved medically. (wits.ac.za)
  • Albinism, a rare condition characterized by a lack of pigment in an animal's body, making them look white with red eyes, has historical significance in that albino bison have been recognized as a religious symbol for some Native American Indigenous tribes. (phys.org)
  • Albinism, an inherited genetic condition that reduces melanin pigment production, is "still profoundly misunderstood," according to the U.N. human rights agency. (wspa.com)
  • Albinism is a genetic condition that reduces the amount of melanin in the body. (nyxt.nyc)
  • The word ALBINISM describes a condition that sometimes is present at birth in humans and animals. (albinismo.it)
  • Albinism is an inherited condition associated with significant depigmentation of the skin , hair and eyes . (bvsalud.org)
  • Doctors base the diagnosis of albinism on an examination of the skin and eyes. (msdmanuals.com)
  • 401 children had a diagnosis of albinism , of whom 14 were also diagnosed with ASD. (bvsalud.org)
  • We aim to raise awareness of the higher prevalence of autism in children diagnosed with albinism in order to reach earlier diagnosis and support. (bvsalud.org)
  • For instance, Chiti founded the Albinism Foundation of Zambia , an organization that works to fight discrimination and secure equal rights for those with albinism. (ksjd.org)
  • This abnormal visual field representation makes albinism a promising model to examine cortical self-organization in humans, and it is important to understand how and to what extent visual function of the abnormal cortical visual field representation is preserved. (arvojournals.org)
  • Humans and animals have ALBINISM when they haven' t the usual amount of pigment or color in the skin, in the eyes and in the hair, fur or feather. (albinismo.it)
  • Google 'albinism' and phrases such as "a group of hereditary disorders", "characterised by a deficiency of melanin in the skin, hair and eyes", "skin cancer", and "mutated genes" come up. (wits.ac.za)
  • In plants, albinism is characterised by partial or complete loss of chlorophyll pigments and incomplete differentiation of chloroplast membranes. (wikipedia.org)
  • These ocular changes are common to all types of albinism. (medscape.com)
  • This kind of assault on those with albinism is sadly common in Zambia and surrounding countries, says executive producer and screenwriter Lawrence Thompson. (ksjd.org)
  • The study- recently published in G3: Genes, Genomes, Genetics -details the development of this high-resolution reference genome , which the researchers then used to produce the first test for genetic mutations , starting with the mutation responsible for albinism. (phys.org)
  • Several types of albinism are recognized. (medscape.com)
  • We know of at least 7 types of albinism that are due to faults in different genes, and there are still more genes to be found. (fightforsight.org.uk)
  • Albinism is best known for extremely pale skin that may have little to no color. (healthline.com)
  • Albinism results from defective production of melanin from tyrosine through a complex pathway of metabolic reactions. (medscape.com)
  • The refinement of VEP paradigms to detect the misrouting of visual projections in combination with objective analysis procedures has made the VEP a valuable tool to assist the detection of albinism in clinical routine. (arvojournals.org)
  • Different stimulus conditions were compared to assess the sensitivity and specificity of the procedure for the detection of the misrouting of visual projections in albinism. (arvojournals.org)
  • Like albinism, vitiligo is characterized by lighter skin. (healthline.com)
  • Quantification and comparison of psychiatric distress in African patients with albinism and vitiligo: A 5-year prospective study. (bvsalud.org)

No images available that match "albinism"