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.
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.
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.
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.
Color of the iris.
Albinism affecting the eye in which pigment of the hair and skin is normal or only slightly diluted. The classic type is X-linked (Nettleship-Falls), but an autosomal recessive form also exists. Ocular abnormalities may include reduced pigmentation of the iris, nystagmus, photophobia, strabismus, and decreased visual acuity.
Melanin-containing organelles found in melanocytes and melanophores.
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)
Coloration of the skin.
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.
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.
Coloration or discoloration of a part by a pigment.
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.
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.
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.
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.
Color of hair or fur.
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)
Disorder characterized by a decrease or lack of platelet dense bodies in which the releasable pool of adenine nucleotides and 5HT are normally stored.
A family of large adaptin protein complex subunits of approximately 90-130 kDa in size.
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.
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.
The common orally transmitted traditions, myths, festivals, songs, superstitions, and stories of all peoples.
Diseases, dysfunctions, or disorders of or located in the iris.
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 type of mutation in which a number of NUCLEOTIDES deleted from or inserted into a protein coding sequence is not divisible by three, thereby causing an alteration in the READING FRAMES of the entire coding sequence downstream of the mutation. These mutations may be induced by certain types of MUTAGENS or may occur spontaneously.
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)
Biochemical identification of mutational changes in a nucleotide sequence.
Glycoproteins found on the membrane or surface of cells.
Variation in a population's DNA sequence that is detected by determining alterations in the conformation of denatured DNA fragments. Denatured DNA fragments are allowed to renature under conditions that prevent the formation of double-stranded DNA and allow secondary structure to form in single stranded fragments. These fragments are then run through polyacrylamide gels to detect variations in the secondary structure that is manifested as an alteration in migration through the gels.
An individual in which both alleles at a given locus are identical.
The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment.
Proteins which are found in membranes including cellular and intracellular membranes. They consist of two types, peripheral and integral proteins. They include most membrane-associated enzymes, antigenic proteins, transport proteins, and drug, hormone, and lectin receptors.
The parts of a transcript of a split GENE remaining after the INTRONS are removed. They are spliced together to become a MESSENGER RNA or other functional RNA.

Altered trafficking of lysosomal proteins in Hermansky-Pudlak syndrome due to mutations in the beta 3A subunit of the AP-3 adaptor. (1/138)

Hermansky-Pudlak syndrome (HPS) is a genetic disorder characterized by defective lysosome-related organelles. Here, we report the identification of two HPS patients with mutations in the beta 3A subunit of the heterotetrameric AP-3 complex. The patients' fibroblasts exhibit drastically reduced levels of AP-3 due to enhanced degradation of mutant beta 3A. The AP-3 deficiency results in increased surface expression of the lysosomal membrane proteins CD63, lamp-1, and lamp-2, but not of nonlysosomal proteins. These differential effects are consistent with the preferential interaction of the AP-3 mu 3A subunit with tyrosine-based signals involved in lysosomal targeting. Our results suggest that AP-3 functions in protein sorting to lysosomes and provide an example of a human disease in which altered trafficking of integral membrane proteins is due to mutations in a component of the sorting machinery.  (+info)

Abnormal expression and subcellular distribution of subunit proteins of the AP-3 adaptor complex lead to platelet storage pool deficiency in the pearl mouse. (2/138)

The pearl mouse is a model for Hermansky Pudlak Syndrome (HPS), whose symptoms include hypopigmentation, lysosomal abnormalities, and prolonged bleeding due to platelet storage pool deficiency (SPD). The gene for pearl has recently been identified as the beta3A subunit of the AP-3 adaptor complex. The objective of these experiments was to determine if the expression and subcellular distribution of the AP-3 complex were altered in pearl platelets and other tissues. The beta3A subunit was undetectable in all pearl cells and tissues. Also, expression of other subunit proteins of the AP-3 complex was decreased. The subcellular distribution of the remaining AP-3 subunits in platelets, macrophages, and a melanocyte-derived cell line of pearl mice was changed from the normal punctate, probably endosomal, pattern to a diffuse cytoplasmic pattern. Ultrastructural abnormalities in mutant lysosomes were likewise apparent in mutant kidney and a cultured mutant cell line. Genetically distinct mouse HPS models had normal expression of AP-3 subunits. These and related experiments strongly suggest that the AP-3 complex regulates the biogenesis/function of organelles of platelets and other cells and that abrogation of expression of the AP-3 complex leads to platelet SPD.  (+info)

Albinism: its implications for refractive development. (3/138)

PURPOSE: Albinism involves the mutation of one or more of the genes associated with melanin synthesis and has many ramifications for vision. This study focuses on the refractive implications of albinism in the context of emmetropization. METHODS: Refractive, biometric, and visual acuity data were collected for a group of 25 albino individuals that included the following: 18 oculocutaneous (13 tyrosine positive, 5 tyrosine negative); 7 ocular (2 autosomal recessive, 5 sex-linked recessive). Their age range was 3 to 51 years. All exhibited horizontal pendular nystagmus. RESULTS: There were no statistically significant differences relating to albino subtype for any of the measured parameters. All the subjects had reduced visual acuity (mean: 0.90, logMAR) and overall, there was a bias toward hyperopia in their refractive errors (mean: + 1.07 D). However the refractive errors of the group covered a broad range (SD: 4.67 D) and included both high myopia and high hyperopia. An axial origin to the refractive errors is implied by the high correlation between refractive errors and axial lengths. Refractive astigmatism averaged 2.37 D and was consistently with-the-rule and highly correlated with corneal astigmatism, which was also with-the-rule. Meridional analysis of the refractive data indicated that the vertical meridian for hyperopic subjects was consistently nearer emmetropia compared to their horizontal meridian. Myopic subjects showed the opposite trend. CONCLUSIONS: The overall refractive profile of the subjects is consistent with emmetropization being impaired in albinism. However, the refractive errors of hyperopic subjects also can be explained in terms of "meridional emmetropization." The contrasting refractive profiles of myopic subjects may reflect operational constraints of the emmetropization process.  (+info)

The Hermansky-Pudlak syndrome (HPS) protein is part of a high molecular weight complex involved in biogenesis of early melanosomes. (4/138)

Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disorder in which oculocutaneous albinism, bleeding tendency and a ceroid-lipofuscin lysosomal storage disease result from defects of multiple cytoplasmic organelles: melanosomes, platelet dense granules and lysosomes. The HPS polypeptide, a 700 amino acid protein which is unrelated to any known proteins, is likely to be involved in the biogenesis of these different organelles. Here, we show that HPS is a non-glycosylated, non-membrane protein which is a component of two distinct high molecular weight complexes. In non-melanotic cells the HPS protein is contained almost entirely in an approximately 200 kDa complex that is widely distributed throughout the cytosol. In melanotic cells the HPS protein is partitioned between this cytosolic complex and a >500 kDa complex that appears to consist of the approximately 200 kDa complex in association with membranous components. Subcellular fractionation, immunofluorescence and immunoelectron microscopy studies indicate that the membrane-associated HPS complex of melanotic cells is associated with tubulovesicular structures, small non-coated vesicles, and nascent and early-stage melanosomes. These findings suggest that the HPS complex is involved in the biogenesis of early melanosomes.  (+info)

Endoplasmic reticulum retention is a common defect associated with tyrosinase-negative albinism. (5/138)

Tyrosinase is a melanocyte-specific enzyme critical for the synthesis of melanin, a process normally restricted to a post-Golgi compartment termed the melanosome. Loss-of-function mutations in tyrosinase are the cause of oculocutaneous albinism, demonstrating the importance of the enzyme in pigmentation. In the present study, we explored the possibility that trafficking of albino tyrosinase from the endoplasmic reticulum (ER) to the Golgi apparatus and beyond is disrupted. Toward this end, we analyzed the common albino mouse mutation Tyr(C85S), the frequent human albino substitution TYR(T373K), and the temperature-sensitive tyrosinase TYR(R402Q)/Tyr(H402A) found in humans and mice, respectively. Intracellular localization was monitored in albino melanocytes carrying the native mutation, as well as in melanocytes ectopically expressing green fluorescent protein-tagged tyrosinase. Enzymatic characterization of complex glycans and immunofluorescence colocalization with organelle-specific resident proteins established that all four mutations produced defective proteins that were retained in the ER. TYR(R402Q)/Tyr(H402A) Golgi processing and transport to melanosomes were promoted at the permissive temperature of 32 degrees C, but not at the nonpermissive 37 degrees C temperature. Furthermore, evidence of protein misfolding was demonstrated by the prolonged association of tyrosinase mutants with calnexin and calreticulin, known ER chaperones that play a key role in the quality-control processes of the secretory pathway. From these results we concluded that albinism, at least in part, is an ER retention disease.  (+info)

A mutation in Rab27a causes the vesicle transport defects observed in ashen mice. (6/138)

The dilute (d), leaden (ln), and ashen (ash) mutations provide a unique model system for studying vesicle transport in mammals. All three mutations produce a lightened coat color because of defects in pigment granule transport. In addition, all three mutations are suppressed by the semidominant dilute-suppressor (dsu), providing genetic evidence that these mutations function in the same or overlapping transport pathways. Previous studies showed that d encodes a major vesicle transport motor, myosin-VA, which is mutated in Griscelli syndrome patients. Here, using positional cloning and bacterial artificial chromosome rescue, we show that ash encodes Rab27a. Rab GTPases represent the largest branch of the p21 Ras superfamily and are recognized as key players in vesicular transport and organelle dynamics in eukaryotic cells. We also show that ash mice have platelet defects resulting in increased bleeding times and a reduction in the number of platelet dense granules. These defects have not been reported for d and ln mice. Collectively, our studies identify Rab27a as a critical gene for organelle-specific protein trafficking in melanocytes and platelets and suggest that Rab27a functions in both MyoVa dependent and independent pathways.  (+info)

Lysosome-related organelles. (7/138)

Lysosomes are membrane-bound cytoplasmic organelles involved in intracellular protein degradation. They contain an assortment of soluble acid-dependent hydrolases and a set of highly glycosylated integral membrane proteins. Most of the properties of lysosomes are shared with a group of cell type-specific compartments referred to as 'lysosome-related organelles', which include melanosomes, lytic granules, MHC class II compartments, platelet-dense granules, basophil granules, azurophil granules, and Drosophila pigment granules. In addition to lysosomal proteins, these organelles contain cell type-specific components that are responsible for their specialized functions. Abnormalities in both lysosomes and lysosome-related organelles have been observed in human genetic diseases such as the Chediak-Higashi and Hermansky-Pudlak syndromes, further demonstrating the close relationship between these organelles. Identification of genes mutated in these human diseases, as well as in mouse and Drosophila: pigmentation mutants, is beginning to shed light on the molecular machinery involved in the biogenesis of lysosomes and lysosome-related organelles.  (+info)

Leucodystrophy and oculocutaneous albinism in a child with an 11q14 deletion. (8/138)

We report a patient with an undetermined leucodystrophy associated with type 1A oculocutaneous albinism (OCA). Type 1 OCA results from recessive mutations in the tyrosinase gene (TYR) located in 11q14.3. The patient was found by FISH to carry a deletion of at least the first exon of the TYR gene on one chromosome and a (TG) deletion at codon 244/245 on the second chromosome. The existence of the microdeletion suggested that a gene responsible for leucodystrophy was located in the vicinity of the TYR gene. A combination of a test of hemizygosity and contig mapping studies allowed us to map the gene within a 0.6 cM region flanked by microsatellite markers D11S1780 and D11S931.  (+info)

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.

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.

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.

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.

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.

Ocular albinism is a type of albinism that primarily affects the eyes. It is a genetic disorder characterized by the reduction or absence of melanin, the pigment responsible for coloring the skin, hair, and eyes. In ocular albinism, melanin production is deficient in the eyes, leading to various eye abnormalities.

The main features of ocular albinism include:

1. Nystagmus: Rapid, involuntary back-and-forth movement of the eyes.
2. Iris transillumination: The iris appears translucent due to the lack of pigment, allowing light to pass through easily. This can be observed using a light source shone into the eye.
3. Foveal hypoplasia: Underdevelopment or absence of the fovea, a small pit in the retina responsible for sharp, central vision.
4. Photophobia: Increased sensitivity to light due to the lack of pigment in the eyes.
5. Strabismus: Misalignment of the eyes, which can result in double vision or lazy eye.
6. Reduced visual acuity: Decreased ability to see clearly, even with corrective lenses.

Ocular albinism is typically inherited as an X-linked recessive trait, meaning it primarily affects males, while females can be carriers of the condition. However, there are also autosomal recessive forms of ocular albinism that can affect both males and females equally. Treatment for ocular albinism usually involves managing symptoms with corrective lenses, low-vision aids, and vision therapy to improve visual skills.

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.

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.

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.

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).

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.

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.

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.

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.

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.

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.

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'.

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.

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.

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.

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 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'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!

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.

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.

A frameshift mutation is a type of genetic mutation that occurs when the addition or deletion of nucleotides in a DNA sequence is not divisible by three. Since DNA is read in groups of three nucleotides (codons), which each specify an amino acid, this can shift the "reading frame," leading to the insertion or deletion of one or more amino acids in the resulting protein. This can cause a protein to be significantly different from the normal protein, often resulting in a nonfunctional protein and potentially causing disease. Frameshift mutations are typically caused by insertions or deletions of nucleotides, but they can also result from more complex genetic rearrangements.

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.

DNA Mutational Analysis is a laboratory test used to identify genetic variations or changes (mutations) in the DNA sequence of a gene. This type of analysis can be used to diagnose genetic disorders, predict the risk of developing certain diseases, determine the most effective treatment for cancer, or assess the likelihood of passing on an inherited condition to offspring.

The test involves extracting DNA from a patient's sample (such as blood, saliva, or tissue), amplifying specific regions of interest using polymerase chain reaction (PCR), and then sequencing those regions to determine the precise order of nucleotide bases in the DNA molecule. The resulting sequence is then compared to reference sequences to identify any variations or mutations that may be present.

DNA Mutational Analysis can detect a wide range of genetic changes, including single-nucleotide polymorphisms (SNPs), insertions, deletions, duplications, and rearrangements. The test is often used in conjunction with other diagnostic tests and clinical evaluations to provide a comprehensive assessment of a patient's genetic profile.

It is important to note that not all mutations are pathogenic or associated with disease, and the interpretation of DNA Mutational Analysis results requires careful consideration of the patient's medical history, family history, and other relevant factors.

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).

Single-Stranded Conformational Polymorphism (SSCP) is not a medical condition but rather a laboratory technique used in molecular biology and genetics. It refers to the phenomenon where a single-stranded DNA or RNA molecule can adopt different conformations or shapes based on its nucleotide sequence, even if the difference in the sequence is as small as a single base pair change. This property is used in SSCP analysis to detect mutations or variations in DNA or RNA sequences.

In SSCP analysis, the denatured single-stranded DNA or RNA sample is subjected to electrophoresis on a non-denaturing polyacrylamide gel. The different conformations of the single-stranded molecules migrate at different rates in the gel, creating multiple bands that can be visualized by staining or other detection methods. The presence of additional bands or shifts in band patterns can indicate the presence of a sequence variant or mutation.

SSCP analysis is often used as a screening tool for genetic diseases, cancer, and infectious diseases to identify genetic variations associated with these conditions. However, it has largely been replaced by more sensitive and accurate methods such as next-generation sequencing.

A homozygote is an individual who has inherited the same allele (version of a gene) from both parents and therefore possesses two identical copies of that allele at a specific genetic locus. This can result in either having two dominant alleles (homozygous dominant) or two recessive alleles (homozygous recessive). In contrast, a heterozygote has inherited different alleles from each parent for a particular gene.

The term "homozygote" is used in genetics to describe the genetic makeup of an individual at a specific locus on their chromosomes. Homozygosity can play a significant role in determining an individual's phenotype (observable traits), as having two identical alleles can strengthen the expression of certain characteristics compared to having just one dominant and one recessive allele.

A phenotype is the physical or biochemical expression of an organism's genes, or the observable traits and characteristics resulting from the interaction of its genetic constitution (genotype) with environmental factors. These characteristics can include appearance, development, behavior, and resistance to disease, among others. Phenotypes can vary widely, even among individuals with identical genotypes, due to differences in environmental influences, gene expression, and genetic interactions.

Membrane proteins are a type of protein that are embedded in the lipid bilayer of biological membranes, such as the plasma membrane of cells or the inner membrane of mitochondria. These proteins play crucial roles in various cellular processes, including:

1. Cell-cell recognition and signaling
2. Transport of molecules across the membrane (selective permeability)
3. Enzymatic reactions at the membrane surface
4. Energy transduction and conversion
5. Mechanosensation and signal transduction

Membrane proteins can be classified into two main categories: integral membrane proteins, which are permanently associated with the lipid bilayer, and peripheral membrane proteins, which are temporarily or loosely attached to the membrane surface. Integral membrane proteins can further be divided into three subcategories based on their topology:

1. Transmembrane proteins, which span the entire width of the lipid bilayer with one or more alpha-helices or beta-barrels.
2. Lipid-anchored proteins, which are covalently attached to lipids in the membrane via a glycosylphosphatidylinositol (GPI) anchor or other lipid modifications.
3. Monotopic proteins, which are partially embedded in the membrane and have one or more domains exposed to either side of the bilayer.

Membrane proteins are essential for maintaining cellular homeostasis and are targets for various therapeutic interventions, including drug development and gene therapy. However, their structural complexity and hydrophobicity make them challenging to study using traditional biochemical methods, requiring specialized techniques such as X-ray crystallography, nuclear magnetic resonance (NMR) spectroscopy, and single-particle cryo-electron microscopy (cryo-EM).

Exons are the coding regions of DNA that remain in the mature, processed mRNA after the removal of non-coding intronic sequences during RNA splicing. These exons contain the information necessary to encode proteins, as they specify the sequence of amino acids within a polypeptide chain. The arrangement and order of exons can vary between different genes and even between different versions of the same gene (alternative splicing), allowing for the generation of multiple protein isoforms from a single gene. This complexity in exon structure and usage significantly contributes to the diversity and functionality of the proteome.

"Orphanet: Oculocutaneous albinism". Orphanet. "OMIM Entry - #615179 - ALBINISM, OCULOCUTANEOUS, TYPE VII; OCA7". Online ... 864 Oculocutaneous albinism is also found in non-human animals. The following types of oculocutaneous albinism have been ... Oculocutaneous albinism is a form of albinism involving the eyes (oculo-), the skin (-cutaneous), and the hair. Overall, an ... Seven types of oculocutaneous albinism have been described, all caused by a disruption of melanin synthesis and all autosomal ...
The other end of the spectrum of albinism is "a form of albinism called rufous oculocutaneous albinism, which usually affects ... GeneReview/NCBI/NIH/UW entry on Oculocutaneous Albinism Type 2 GeneReview/NCBI/NIH/UW entry on Oculocutaneous Albinism Type 4 ... in melanocytes from an individual with brown oculocutaneous albinism: A new subtype of albinism classified as "OCA3"". American ... National Organization for Albinism and Hypopigmentation". 15 December 2020. "Entry - #606574 - ALBINISM, OCULOCUTANEOUS, TYPE ...
"Oculocutaneous Albinism". NORD (National Organization for Rare Disorders). Retrieved 2020-06-23. Coat color, dominant white ... This is in contrast to albinism, for which leucism is often mistaken. Albinism results in the reduction of melanin production ... Due to the lack of melanin production in both the retinal pigmented epithelium (RPE) and iris, those affected by albinism ... Albino and white squirrels Amelanism Dyschromia Erythrism Heterochromia iridum Albinism Melanism Piebaldism Vitiligo ...
TYRP1 Albinism, oculocutaneous, type IA; 203100; TYR Albinism, oculocutaneous, type IB; 606952; TYR Albinism, oculocutaneous, ... CACNA1F Albinism, brown oculocutaneous; 203200; OCA2 Albinism, brown; 203290; ... ATP7A Ocular albinism, type I, Nettleship-Falls type; 300500; GPR143 Oculoauricular syndrome; 612109; HMX1 Oculocutaneous ... MITF Waardenburg syndrome/albinism, digenic; 103470; TYR Waardenburg syndrome/ocular albinism, digenic; 103470; MITF Wagner ...
... in melanocytes from an individual with brown oculocutaneous albinism: a new subtype of albinism classified as "OCA3"". American ... Mutations in the mouse Tyrp1 gene are associated with brown pelage and in the human TYRP1 gene with oculocutaneous albinism ... Manga P, Kromberg JG, Box NF, Sturm RA, Jenkins T, Ramsay M (November 1997). "Rufous oculocutaneous albinism in southern ... Sarangarajan R, Boissy RE (December 2001). "Tyrp1 and oculocutaneous albinism type 3". Pigment Cell Research. 14 (6): 437-444. ...
Types of albinism include: Oculocutaneous albinism. Affects the skin, hair, and eyes. Around 1 in 70 people have a mutation in ... Jeambrun, Pascale (1998). "Oculocutaneous albinism: Clinical, historical and anthropological aspects". Archives de Pédiatrie. 5 ... Albinism organisations and others have expressed criticism over the portrayal of individuals with albinism in popular culture, ... Centers, S. (2005). "Famous People with Albinism". SARA-Foundation.com. Campbell, California: Supporting Albinism Research and ...
Thus, patients are susceptible to infections and often present with oculo-cutaneous albinism and coagulation defects. Patients ... The syndrome is associated with oculocutaneous albinism. Patients are prone to infections, especially with Staphylococcus ... People with CHS have light skin and silvery hair (albinism) and frequently complain of solar sensitivity and photophobia. Other ... The decrease in phagocytosis results in recurrent pyogenic infections, albinism, and peripheral neuropathy. In Chédiak-Higashi ...
Lubin, J. R. (1981). Oculocutaneous Albinism Associated with Corneal Mesodermal Dysgenesis. American Journal of Ophthalmology, ... urethral and anal anomalies as well as albinism. The molecular genetics of Axenfeld-Rieger syndrome are poorly understood, but ...
March 2004). "Oculocutaneous albinism type 4 is one of the most common types of albinism in Japan". American Journal of Human ... Mutations in the gene have also been identified as the cause of human Type IV oculocutaneous albinism. SLC45A2 is the so-called ... Suzuki T, Inagaki K, Fukai K, Obana A, Lee ST, Tomita Y (January 2005). "A Korean case of oculocutaneous albinism type IV ... "OMIM Entry - #606574 - ALBINISM, OCULOCUTANEOUS, TYPE IV; OCA4". Mendelian Inheritance in Man. Johns Hopkins University. ...
Type I oculocutaneous albinism (OCA1a) is the form most commonly recognised as 'albino' as this results in a complete absence ... 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 ... Oculocutaneous albinism (OCA) is a clearly defined set of seven types of genetic mutations which reduce or completely prevent ...
Oculocutaneous albinism caused by mutations in the OCA2 gene is called oculocutaneous albinism type 2. The prevalence of OCA ... "Mutations of the P gene in oculocutaneous albinism, ocular albinism, and Prader-Willi syndrome plus albinism". The New England ... "Oculocutaneous albinism type 2". Orphanet. Retrieved 2014-11-09. "OCA2 - oculocutaneous albinism II". Genetics Home Reference ... "Entrez Gene: OCA2 oculocutaneous albinism II (pink-eye dilution homolog, mouse)". Retrieved 2015-03-12. Warren WC, Boggs TE, ...
Snowflake was a western lowland gorilla with non-syndromic oculocutaneous albinism. He had poor vision, though tests to ... "Albinism". nhs.uk. 2017-11-23. Retrieved 2022-12-11. Davis, James R. (June 1, 2014). "0281 - SNOWFLAKE". Dewar Wildlife. Dewar ... The same study revealed that his albinism was caused by a mutation of the SLC45A2 gene. Snowflake received the recessive gene ... which is perhaps suggestive of partial albinism.[citation needed] In 2001, Snowflake was diagnosed with an unusual form of skin ...
Albinism may manifest itself as oculocutaneous (OCA) or just ocular (OA). There occur at least ten different types of OCA and ... Ocular albinism type 1 (OA1) is the most common type of ocular albinism, with a prevalence rate of 1:50,000. It is an ... Ocular albinism results from defects in the melanin system, which may arise from either defects in the OA1 receptor, or ... "NOAH - Ocular". www.albinism.org. Archived from the original on 2002-02-23. Surace, E.M., Angeletti, B., Ballabio, A. and ...
She has oculocutaneous albinism which causes her to have poor vision. Gotell was born and raised in Antigonish, Nova Scotia. ...
January 2006). "Genetic testing for oculocutaneous albinism type 1 and 2 and Hermansky-Pudlak syndrome type 1 and 3 mutations ... Davies, Bh; Tuddenham, Eg (April 1976). "Familial pulmonary fibrosis associated with oculocutaneous albinism and platelet ... Albinism and eye problems: Individuals will have varying amounts of skin pigment (melanin). Because of the albinism there are ... is an extremely rare autosomal recessive disorder which results in oculocutaneous albinism (decreased pigmentation), bleeding ...
Frank Nicholas (2017-09-02). "OMIA 002124-9796: Coat colour, albinism, oculocutaneous type VI in Equus caballus". University of ... and another mutation can cause oculocutaneous albinism (OCA) type 6 (OCA6), which impairs vision. No vision impairment is seen ... Vogel P, Read RW, Vance RB, Platt KA, Troughton K, Rice DS (March 2008). "Ocular albinism and hypopigmentation defects in ...
"A case of familial trichomegaly in association with oculocutaneous albinism type 1". Eye. 18 (8): 863-864. doi:10.1038/sj.eye. ...
"A Partial Gene Deletion of SLC45A2 Causes Oculocutaneous Albinism in Doberman Pinscher Dogs". PLOS ONE. 9 (3): e92127. Bibcode: ... The third way is when dogs are affected by albinism. A different gene, unaffected by coat color, can make the eyes blue. ... Wijesena, H. R.; Schmutz, S. M. (1 May 2015). "A Missense Mutation in SLC45A2 Is Associated with Albinism in Several Small Long ... based on a 2014 publication about albinism in the Doberman Pinscher and later in other small breeds, the discovery was made ...
Kelly has oculocutaneous albinism, is visually impaired and competes with a sighted guide. At the 2009 New Zealand Winter Games ...
Oculocutaneous albinism, OCA2, is the most common gene type of albinism inherited disorders among the Bantu population of ... Lund, Patricia M.; Taylor, Julie S. (30 June 2008). "Lack of adequate sun protection for children with oculocutaneous albinism ... Albinism Foundation Zambia is based in Lusaka, Zambia. The founder of the Albinism Foundation of Zambia (AFZ) is John Chiti as ... "Albinism in Malawi Stop The Killings." Albinism in Malawi Stop The Killings , Amnesty International, 2016, "Tanzania: No Albino ...
Common symptoms are: microcephaly oculocutaneous albinism Slow development of the fingers hypoplasia of the distal phalanx of ... The syndrome includes microcephaly, micrognathia, oculocutaneous albinism, hypoplasia of the distal phalanx of fingers, and ... Kotzot, Dieter; Richter, Konrad; Gierth-Fiebig, Kornelia (15 April 1994). "Oculocutaneous albinism, immunodeficiency, ... positive oculocutaneous albinism Recurrent bacterial infections granulocytopenia intermittent thrombopenia protruding midface/ ...
Winkler PA (2014). "A Partial Gene Deletion of SLC45A2 Causes Oculocutaneous Albinism in Doberman Pinscher Dogs". PLOS ONE. 9 ( ... Although this is consistent with albinism, the proper characterization of the mutation is currently unknown. The animals are ... commonly known as tyrosinase-positive albinoids, lacking melanin in oculocutaneous structures. This condition is caused by a ...
She has only 7-9% vision owing to oculocutaneous albinism, which causes visual impairment. She met the para-cyclist Anthony ...
This transporter is also known to be involved in oculocutaneous albinism type 4 in humans. As it is a recessive allele, and his ... and was diagnosed with non-syndromic albinism. The genetic variant for Snowflake's albinism was identified by the scientists as ... He presented the typical traits and characteristics of albinism seen in humans, including white hair, pinkish skin, light ...
... and has a visual disability called oculocutaneous albinism. Esdaile is a goalball player, and is classified as a B2 competitor ...
The name of the gene is derived from the disorder it causes, oculocutaneous albinism type II.) Different SNPs within OCA2 are ... NOAH - What is Albinism? Archived 14 May 2012 at the Wayback Machine. Albinism.org. Retrieved on 23 December 2011. Dave Johnson ... violet-colored eyes occur only due to albinism. Eyes that appear red or violet under certain conditions due to albinism are ... In severe forms of albinism, there is no pigment on the back of the iris, and light from inside the eye can pass through the ...
Oculocutaneous albinism: clinical, historical and anthropological aspects]. Archives de Pédiatrie (in French). 5 (8): 896-907. ... Guna people have a high incidence rate of albinism, which led to their nickname of "White Indians" in the early 1900s. In Guna ... Albinism among the Amerindians] (PDF) (in French). Paris: Éditions INSERM. pp. 238-239. ISBN 978-2-85598-488-9. Alí, Maurizio. ...
... underlie a new form of oculocutaneous albinism, OCA4". American Journal of Human Genetics. 69 (5): 981-8. doi:10.1086/324340. ...
Type IV oculocutaneous albinism, like other types of human albinism, results in hypopigmentation of the skin and eyes, with ... Albinism Association of Australia. "What is Albinism?". Archived from the original on 2009-09-24. Retrieved 2009-11-02. Rieder ... Underlie a New Form of Oculocutaneous Albinism, OCA4". American Journal of Human Genetics. 69 (5): 981-8. doi:10.1086/324340. ... SLC45A2 gene is best known in humans as being the location of a mutation that results in human type IV oculocutaneous albinism ...
GeneReviews/NCBI/NIH/UW entry on Oculocutaneous Albinism Type 1 Tyrosinase at the U.S. National Library of Medicine Medical ... and optic neuronal defects shared in all types of oculocutaneous and ocular albinism". The Alabama Journal of Medical Sciences ... A mutation in the tyrosinase gene resulting in impaired tyrosinase production leads to type I oculocutaneous albinism, a ... 1087-1092, 1996 Witkop CJ (Oct 1979). "Albinism: hematologic-storage disease, susceptibility to skin cancer, ...
"Orphanet: Oculocutaneous albinism". Orphanet. "OMIM Entry - #615179 - ALBINISM, OCULOCUTANEOUS, TYPE VII; OCA7". Online ... 864 Oculocutaneous albinism is also found in non-human animals. The following types of oculocutaneous albinism have been ... Oculocutaneous albinism is a form of albinism involving the eyes (oculo-), the skin (-cutaneous), and the hair. Overall, an ... Seven types of oculocutaneous albinism have been described, all caused by a disruption of melanin synthesis and all autosomal ...
Oculocutaneous albinism is a group of conditions that affect coloring (pigmentation) of the skin, hair, and eyes. Explore ... Genetic Testing Registry: Oculocutaneous albinism type 4 *Genetic Testing Registry: Tyrosinase-negative oculocutaneous albinism ... medlineplus.gov/genetics/condition/oculocutaneous-albinism/ Oculocutaneous albinism. ... Type 3 includes a form of albinism called rufous oculocutaneous albinism, which usually affects dark-skinned people. Affected ...
OMIA:002628-215402 : Skin colour, albinism, oculocutaneous type IV in Channa argus (northern snakehead) ... Insights into the albinism mechanism for two distinct color morphs of Northern Snakehead, Channa argus through histological and ...
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 ...
Clinical and molecular genetic analysis of Angelman syndrome with oculocutaneous albinism type 2: A case report and literature ... complicated with oculocutaneous albinism type 2 (OCA2), and to review the literature. "Angelman syndrome" "P gene" and " ... "Oculocutaneous albinism type 2" were used as keywords to search at CNKI, Wanfang, and PubMed databases (from creation to ... Two cases had a family history of albinism. Electroencephalogram monitoring was completed in 3 cases and the results were ...
Oculocutaneous albinism in southern Africa: Historical background, genetic, clinical and p Oculocutaneous albinism in southern ... Psychology; Developmental Disabilities; Albinism; Health; Albinism, Oculocutaneous; Epidemiology; Genetics albinism and Africa ... Full text: Available Index: AIM (Africa) Main subject: Psychology / Developmental Disabilities / Albinism / Health / Albinism, ... Full text: Available Index: AIM (Africa) Main subject: Psychology / Developmental Disabilities / Albinism / Health / Albinism, ...
Snowflake was a western lowland gorilla with non-syndromic oculocutaneous albinism. He had poor vision, though tests to ... "Albinism". nhs.uk. 2017-11-23. Retrieved 2022-12-11. Davis, James R. (June 1, 2014). "0281 - SNOWFLAKE". Dewar Wildlife. Dewar ... The same study revealed that his albinism was caused by a mutation of the SLC45A2 gene. Snowflake received the recessive gene ... which is perhaps suggestive of partial albinism.[citation needed] In 2001, Snowflake was diagnosed with an unusual form of skin ...
Oculocutaneous Albinism Type 1. 00:35. 2.. Oculocutaneous Albinism Type 2. 01:26. ...
oculocutaneous albinism + Oculodental Syndrome Rutherfurd Syndrome oculodentodigital dysplasia + Oculodentodigital Dysplasia, ...
... is a metabolic disorder that causes partial albinism, prolonged bleeding, sensitivity to light and cataracts to develop at a ... Hypopigmentation, Partial oculocutaneous albinism, Photophobia, Cataracts, Prolonged bleeding. Age of Onset. At birth Present ... Affected cats tend to show partial albinism or hypopigmentation of various degrees, which may not be evident unless compared to ... Chediak-Higashi Syndrome (CHS) is a metabolic disorder that causes partial albinism, prolonged bleeding, sensitivity to light ...
Ultra-widefield Fundus Image in Oculocutaneous Albinism. JAMA ophthalmology Padungkiatsagul, T. n., Leishangthem, L. n., Moss, ...
... where 1 in 1,000 people have some form of albinism. Currently there is no cure for albinism, however it can be managed using ... There are several genetic mutations that cause albinism. This condition occurs throughout the world; it affects 1 in 20,000 ... Albinism is a genetic disorder that results in decreased production of a pigment called melanin in the skin, hair, and eyes, ... Albinism occurs as two major types: oculo-cutaneous albinism (OCA), which affects the eyes, hair, and skin, and ocular albinism ...
... is a rare group of autosomal recessive diseases whose manifestations include oculocutaneous albinism, bleeding, and lysosomal ... Gronskov K, Ek J, Brondum-Nielsen K. Oculocutaneous albinism. Orphanet J Rare Dis. 2007 Nov 2. 2:43. [QxMD MEDLINE Link]. ... Foveal thickness and macular volume in patients with oculocutaneous albinism. Retina. 2007 Nov-Dec. 27(9):1227-30. [QxMD ... is a rare group of autosomal recessive diseases whose manifestations include oculocutaneous albinism, bleeding diathesis, and ...
Terenzian M, Spreafica F, Serra A, Poddam M, Cerede S, Belli F, Amelarotic Melanoma in a child with oculo - cutaneous albinism ...
The main reason for vision impairment in oculocutaneous albinism, however, develops after birth, so Brooks and his team ... If the standard heel stick test identified newborn babies with oculocutaneous albinism, perhaps a short period of treatment ... and development of novel therapeutics for oculocutaneous albinism-a disorder of melanin pigment in the skin, hair, and eyes. ... and understanding of the complex genetic underpinnings of both oculocutaneous albinism and coloboma. ...
oculocutaneous albinism. There are commonly deficits of the visual system which prevent binocular vision. ...
This gene causes oculocutaneous albinism (OCA), also known as Doberman Z Factor Albinism. Dogs with a DD result will have OCA. ...
Quality of life in patients with oculocutaneous albinism. An Bras Dermatol. 2015;90:513-7. ... and oculocutaneous albinism (only at the physical level) [81].. Regarding instruments applied to the pediatric population, the ...
Oculocutaneous Albinism. Asper Biogene Asper Biogene LLC. Estonia. 27. 22. *C Sequence analysis of the entire coding region ...
Oculocutaneous Albinism. OCA which is characterized by diminished melanin pigmentation in the skin and eyes, as well as vision ... Dermatological uses of nitisinone are oculocutaneous albinism, hereditary tyrosinemia, African trypanosomiasis, and ...
Oculocutaneous albinism. Orphanet J Rare Dis. 2 (43). [about 8 pages]. *Hasson K. 2019. Illness or Identity? A Disability ... His daughter, Ruthie, has oculocutaneous albinism, a rare genetic disorder characterized by mutations in the OCA2 gene, which ... And the kids who inevitably end up with oculocutaneous albinism or other rare diseases will be even less normal than they are ... Weiss and his partner "believe that had we learned our unborn child had oculocutaneous albinism, Ruthie would not be here today ...
Albinism, oculocutaneous, type IV. TYR. Albinism, oculocutaneous, type IA;. Albinism, oculocutaneous, type IB;. Waardenburg ... Albinism, oculocutaneous, type IV. TYR. Albinism, oculocutaneous, type IA;. Albinism, oculocutaneous, type IB;. Waardenburg ... Oculocutaneous Albinism, Ocular Albinism, Hermansky-Pudlak Syndrome, Chediak-Higashi Syndrome. NGS panel. Gene. Condition. ... Oculocutaneous Albinism, Ocular Albinism, Hermansky-Pudlak Syndrome, Chediak-Higashi Syndrome. NGS panel. Genes. (full. coding ...
oculocutaneous albinism II 3.8808 HERC2 HECT and RLD domain containing E3 ubiquitin protein ligase 2 2.49338 ...
Oculocutaneous albinism From NCATS Genetic and Rare Diseases Information Center. * Oculocutaneous albinism type 1 From NCATS ... Clinical utility gene card for: Oculocutaneous albinism. * Mothers Experiences of Genetic Counselling in Johannesburg, South ... Hermansky-Pudlak syndrome and oculocutaneous albinism in Chinese children with pigmentation defects and easy bruising. Power ... Oculocutaneous albinism type 1B From NCATS Genetic and Rare Diseases Information Center ...
... oculocutaneous albinism types 1, 2, 3, and 4; ocular albinism; Chediak-Higashi syndrome (see the image bel... ... Oculocutaneous albinism type 4 - Rare, except in Japan, where 24% of individuals with oculocutaneous albinism have this form ... Oculocutaneous albinism types 1, 2, 3, and 4 and ocular albinism are not associated with mortality and/or morbidity outside of ... oculocutaneous albinism types 1, 2, 3, and 4; ocular albinism; Chediak-Higashi syndrome (see the image below); Hermansky-Pudlak ...
Oculocutaneous albinism type 2 67% * Population 25% * Skin Pigmentation 79% Agriculture & Biology. * ancestry 28% ...
Chédiak-Higashi syndrome (CHS) is one of the primary immunodeficiency syndromes accompanied by oculocutaneous albinism. It is ... lymphohistiocytosis based on the existence of a giant granule of neutrophils in the peripheral blood smear and oculocutaneous ...
... is characterized by tyrosinase-positive oculocutaneous albinism, significant reduction in visual acuity often complicated by ... Genetic Testing for Oculocutaneous Albinism Type 1 and 2 and Hermansky-Pudlak Syndrome Type 1 and 3 Mutations in Puerto Rico. J ... Genetic defects and clinical characteristics of patients with a form of oculocutaneous albinism (Hermansky-Pudlak syndrome). ... Hermansky-Pudlak syndrome (HPS) is characterized by tyrosinase-positive oculocutaneous albinism, significant reduction in ...
Oculocutaneous albinism SLC45A2 c.1478G>A. 54 EUR. kliknutím detail zavřete. Genetically determined disease_PTGS2. ...
  • Don't face the difficulties of ocular albinism alone. (carenity.us)
  • The ophthalmologist plays an important role in detecting albinism because most forms of albinism present with ocular features as the primary morbidity. (medscape.com)
  • These ocular changes are common to all types of albinism. (medscape.com)
  • Traditionally, albinism has been classified according to clinical phenotype, and the 2 main categories are oculocutaneous albinism (OCA) and ocular albinism (OA). (medscape.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)
  • Albinism: hematologic-storage disease, susceptibility to skin cancer, and optic neuronal defects shared in all types of oculocutaneous and ocular albinism» The Alabama Journal of Medical Sciences 16 (4): 327-30. (wikipedia.org)
  • Dermatological uses of nitisinone are oculocutaneous albinism, hereditary tyrosinemia, African trypanosomiasis, and alkaptonuria and the nondermatological indication is ocular neuroblastoma. (scitcentral.com)
  • Oculocutaneous albinism types 1, 2, 3, and 4 and ocular albinism are not associated with mortality and/or morbidity outside of cutaneous sensitivity to solar irradiation and the associated visual defects described below (see Physical). (medscape.com)
  • Ocular albinism affects the eyes and usually not the skin. (msdmanuals.com)
  • Diagnosis of oculocutaneous albinism is usually obvious from the skin examination, but ocular evaluation is necessary. (msdmanuals.com)
  • Seven types of oculocutaneous albinism have been described, all caused by a disruption of melanin synthesis and all autosomal recessive disorders. (wikipedia.org)
  • Most forms of albinism are inherited in an autosomal recessive fashion, which means that it is passed directly from unaffected parents to their children ( Figure 1 ). (frontiersin.org)
  • Chédiak-Higashi syndrome (CHS) is a rare autosomal recessive lysosomal disorder characterized by frequent infections, oculocutaneous albinism (OCA), bleeding diathesis, and progressive neurologic deterioration. (medscape.com)
  • Some individuals with oculocutaneous albinism do not have variants in any of the known genes. (medlineplus.gov)
  • 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)
  • According to the NHS , a person with oculocutaneous albinism is missing the pigment from their irises, which is the colored part of the eye. (dailymail.co.uk)
  • Albinism is a genetic disorder that results in decreased production of a pigment called melanin in the skin, hair, and eyes, resulting in light color or no color. (frontiersin.org)
  • and development of novel therapeutics for oculocutaneous albinism-a disorder of melanin pigment in the skin, hair, and eyes. (nih.gov)
  • Albinism is a disorder of the synthesis of the pigment melanin. (gpnotebook.com)
  • 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)
  • With the availability of new molecular genetic studies, the classification of albinism has shifted emphasis to genotype as opposed to phenotype alone. (medscape.com)
  • Clinical and molecular genetic analysis of Angelman syndrome with oculocutaneous albinism type 2: A case report and literature review]. (bvsalud.org)
  • To summarize the clinical diagnosis and treatment process and genetic test results and characteristics of one child with Angelman syndrome (AS) complicated with oculocutaneous albinism type 2 (OCA2), and to review the literature . (bvsalud.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)
  • 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)
  • There are several genetic mutations that cause albinism. (frontiersin.org)
  • Albinism is a genetic condition that decreases the production of melanin , resulting in a fair skin complexion, light eyes and hair, and increased susceptibility to various skin and eye conditions. (frontiersin.org)
  • By collecting clinical data from patients and immediate family members, they aim to improve diagnostics, genetic counseling, and understanding of the complex genetic underpinnings of both oculocutaneous albinism and coloboma. (nih.gov)
  • 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)
  • [ 2 ] In young adults, a combination of these defects with oculocutaneous albinism or recurrent infections should bring CHS into consideration. (medscape.com)
  • A tyrosinase gene missense mutation in temperature-sensitive type I oculocutaneous albinism. (wikipedia.org)
  • 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)
  • Type 3, specifically rufous oculocutaneous albinism, has been described primarily in people from southern Africa. (medlineplus.gov)
  • Alterations in the MC1R gene can change the appearance of people with oculocutaneous albinism type 2. (medlineplus.gov)
  • Angelman syndrome " "P gene " and " Oculocutaneous albinism type 2" were used as keywords to search at CNKI, Wanfang, and PubMed databases (from creation to December 2019). (bvsalud.org)
  • Genes can be tested to determine the specific type of albinism the patient has. (frontiersin.org)
  • Infant with oculocutaneous albinism type 1 presenting with hypomelanotic skin, white hair, and pink irides and pupils resulting from the dysfunction of tyrosinase in the melanocytes of these tissues and the subsequent lack of melanin synthesis. (medscape.com)
  • Neonate with oculocutaneous albinism type 3 presenting with minimally pigmented skin and light hair coloration resulting from the dysfunction of tyrosinase-related protein-1 in the melanocytes of these tissues and the subsequent reduction in melanin synthesis. (medscape.com)
  • Oculocutaneous albinism is a group of conditions that affect coloring (pigmentation) of the skin, hair, and eyes. (medlineplus.gov)
  • Albinism is typically diagnosed based on the observation that the skin, hair, and eyes have decreased or absent pigmentation compared to members of the same family or ethnic group. (frontiersin.org)
  • For reasons that remain unclear, this inherited form of albinism affects both skin pigmentation and retinal development, usually causing affected children to need some kind of visual aid. (nih.gov)
  • Oculocutaneous albinism can result from variants (also known as mutations) in several genes, including TYR , OCA2 , TYRP1 , and SLC45A2 . (medlineplus.gov)
  • 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)
  • 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)
  • It turns out that this is the gene that is most commonly mutated in children with albinism. (nih.gov)
  • Leopold Wilbur Reppond, known as Leo, suffers from a rare disorder called oculocutaneous albinism. (dailymail.co.uk)
  • Chediak-Higashi Syndrome (CHS) is a metabolic disorder that causes partial albinism, prolonged bleeding, sensitivity to light and cataracts to develop at a young age. (wisdompanel.com)
  • Oculocutaneous albinism is an inherited defect in melanin formation that causes diffuse hypopigmentation of the skin, hair, and eyes. (msdmanuals.com)
  • Snowflake's great-grandson N'Kou has pink fingers, which is perhaps suggestive of partial albinism. (wikipedia.org)
  • Affected cats tend to show partial albinism or hypopigmentation of various degrees, which may not be evident unless compared to non-affected family members. (wisdompanel.com)
  • Oculocutaneous albinism (OCA) is a group of rare inherited disorders in which a normal number of melanocytes are present but melanin production is absent or greatly decreased. (msdmanuals.com)
  • The following is a brief overview of the current classification of albinism. (medscape.com)
  • Overall, an estimated 1 in 20,000 people worldwide are born with oculocutaneous albinism. (wikipedia.org)
  • Leo was born with Oculocutaneous Albinism (OCA), which affects one in 20,000 children and affects the colour of their skin, hair and eyes and leaves them with extremely bad vision. (dailymail.co.uk)
  • it affects 1 in 20,000 Americans and is more common in other parts of the world, such as in Zimbabwe, Africa, where 1 in 1,000 people have some form of albinism. (frontiersin.org)
  • The following types of oculocutaneous albinism have been identified in humans. (wikipedia.org)
  • Several types of albinism are recognized. (medscape.com)
  • So, we had to ask, if we gave NTCB to a mouse with albinism could we stabilize the tyrosinase protein and improve the production of melanin? (nih.gov)
  • Chédiak-Higashi syndrome (CHS) is one of the primary immunodeficiency syndromes accompanied by oculocutaneous albinism. (qxmd.com)
  • Insights into the albinism mechanism for two distinct color morphs of Northern Snakehead, Channa argus through histological and transcriptome analyses. (omia.org)
  • Albinism results from defective production of melanin from tyrosine through a complex pathway of metabolic reactions. (medscape.com)
  • Currently there is no cure for albinism, however it can be managed using sunscreen, protective clothing, eyeglasses, magnifying glasses, or eye surgery for eye abnormalities. (frontiersin.org)
  • It occurs in every population with varying frequency, and narratives of people with albinism have been recorded since 200 BC. (bvsalud.org)
  • Oculocutaneous albinism is a form of albinism involving the eyes (oculo-), the skin (-cutaneous), and the hair. (wikipedia.org)
  • citation needed] In 2001, Snowflake was diagnosed with an unusual form of skin cancer, almost certainly related to his albinism. (wikipedia.org)
  • Albinism is an inherited condition associated with significant depigmentation of the skin , hair and eyes . (bvsalud.org)
  • 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 lack of melanin in the retina leads to the vision problems characteristic of oculocutaneous albinism. (medlineplus.gov)
  • The physical characteristics associated with albinism , that is, sun -sensitive skin and low vision , can be managed. (bvsalud.org)
  • The main reason for vision impairment in oculocutaneous albinism, however, develops after birth, so Brooks and his team investigate potential early therapeutic interventions in children. (nih.gov)