Albinism: 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.Albinism, Oculocutaneous: 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.Monophenol Monooxygenase: 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.Hermanski-Pudlak Syndrome: Syndrome characterized by the triad of oculocutaneous albinism (ALBINISM, OCULOCUTANEOUS); PLATELET STORAGE POOL DEFICIENCY; and lysosomal accumulation of ceroid lipofuscin.Nystagmus, Pathologic: 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)Hypopigmentation: 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.Folklore: The common orally transmitted traditions, myths, festivals, songs, superstitions, and stories of all peoples.Melanosomes: Melanin-containing organelles found in melanocytes and melanophores.Nystagmus, Congenital: 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)Eye Color: Color of the iris.Melanocytes: 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.Pigmentation: Coloration or discoloration of a part by a pigment.Piebaldism: 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.Melanins: 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 DisordersEvoked Potentials, Visual: The electric response evoked in the cerebral cortex by visual stimulation or stimulation of the visual pathways.Chediak-Higashi Syndrome: 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.Skin Pigmentation: Coloration of the skin.Membrane Transport Proteins: 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.Photophobia: 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.Electronystagmography: 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.Pontederiaceae: 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 ProteinsGenetic Diseases, X-Linked: 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.Characidae: A family of fresh water fish in the order CHARACIFORMES, which includes the Tetras.Social Alienation: The state of estrangement individuals feel in cultural settings that they view as foreign, unpredictable, or unacceptable.Catechol Oxidase: 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.Pedigree: 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.Caves: Geological formations consisting of underground enclosures with access from the surface.Chondrodysplasia Punctata: 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.Mutation: 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.Hair Color: Color of hair or fur.Optic Chiasm: 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.Fovea Centralis: 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)Membrane Glycoproteins: Glycoproteins found on the membrane or surface of cells.Platelet Storage Pool Deficiency: Disorder characterized by a decrease or lack of platelet dense bodies in which the releasable pool of adenine nucleotides and 5HT are normally stored.Pigment Epithelium of Eye: The layer of pigment-containing epithelial cells in the RETINA; the CILIARY BODY; and the IRIS in the eye.Guinea: A republic in western Africa, south of SENEGAL and MALI, east of GUINEA-BISSAU. Its capital is Conakry.Visual Acuity: 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.Ichthyosis: 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.Kallmann 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.Fundus Oculi: 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)Prader-Willi Syndrome: 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)Puerto Rico: 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)Receptor, Melanocortin, Type 1: 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.Melanophores: 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.Sunscreening Agents: Chemical or physical agents that protect the skin from sunburn and erythema by absorbing or blocking ultraviolet radiation.Genes, Recessive: Genes that influence the PHENOTYPE only in the homozygous state.Zimbabwe: 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.Oxidoreductases: 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)Adaptor Protein Complex beta Subunits: A family of large adaptin protein complex subunits of approximately 90-130 kDa in size.Sunburn: 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.Hemorrhagic Disorders: 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).Iris Diseases: Diseases, dysfunctions, or disorders of or located in the iris.Ceroid: A naturally occurring lipid pigment with histochemical characteristics similar to lipofuscin. It accumulates in various tissues in certain experimental and pathological conditions.Visual Pathways: 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)

Purpose: Preconditioning of albino mice using moderate intensity cyclic light may be confounded due to shortened photoreceptor outer segments and reduced rhodopsin expression such that the retinas are less sensitive to light. We hypothesize that preconditioning can be induced in pigmented mice with brief, sub-toxic light exposure. Here we describe the parameters used to induce such preconditioning.. Methods: Sixty-four male 129sv mice were obtained from Charles River (100 days old) and kept in a 12:12 light: dark cycle. Light-preconditioning was done using the following procedure: mice were treated with 1% atropine eye drops at 9:00AM and maintained in the dark for 1 hour to allow the pupils to dilate. Non-toxic light exposure consisted of 5k lux of white light for four hours using a LED lamp. Light-preconditioning was done either 1 or 3 days before LIRD. LIRD was done according to the following procedure: at 9:00AM mice were treated with 1% atropine eye drops and maintained in the dark for 1 ...
Albinism in humans is a congenital disorder characterized by the complete or partial absence of pigment in the skin, hair and eyes. Albinism is associated with a number of vision defects, such as photophobia, nystagmus, and amblyopia. Lack of skin pigmentation makes for more susceptibility to sunburn and skin cancers. In rare cases such as Chédiak-Higashi syndrome, albinism may be associated with deficiencies in the transportation of melanin granules. This also affects essential granules present in immune cells leading to increased susceptibility to infection. Albinism results from inheritance of recessive gene alleles and is known to affect all vertebrates, including humans. It is due to absence or defect of tyrosinase, a copper-containing enzyme involved in the production of melanin. It is the opposite of melanism. Unlike humans, other animals have multiple pigments and for these, albinism is considered to be a hereditary condition characterised by the absence of melanin in particular, in the ...
Building a Powerful Impact w/Grassroots Albinism Special Interest Groups!. The Albinism Alliance Group or TAAG is an advocacy network organized to "Celebrate the Beauty of Albinism!" To accomplish this we serve as an informational resource to the community. Were creating a series of information pertinent to understanding living with albinism and related characteristics. TAAG envisions a larger mulch-cultural resource by joining forces with other special interest grassroots organizations.. The Albinism Alliance Group was formed in March of 2003. and created from merging "The Atlanta Area Support Group" and online social network "Blonde Black Cuties". Since then, membership has grown tremendously and we currently have 397 members around the world.. We have furthered endeavors with social networking, online activities, and meet and greets. Additional activities and events have blossomed into meaningful memories by giving people from all walks of life, an opportunity to share experiences of living ...
For the latest news, events and information about the albinism community, subscribe to Albinism InSight today. NOAH is a volunteer organization which provides people with albinism, their families and those that work with them the opportunity to get information, ask questions, share their experiences, and connect with the albinism community. Resources are also available for those doing a report on albino people.
Rod and mixed rod-cone function was assessed by full field ERG following overnight dark adaptation. At baseline, BALB/c mice were characterized by lower b- and a-wave amplitudes as compared with C57Bl/6J age-matched mice (e.g., at the highest dark-adapted stimulus intensity of 10 cd*s/m2, mixed-rod cone b-wave amplitude was 436 ± 20 μV in BALB/c mice versus 609 ± 45 μV in C57Bl/6J and a-wave amplitude was 161 ± 8 μV versus 333 ± 30 μV; mean ± SEM, P , 0.00001, Fig. 2). Twenty-four hours following a single injection of 50 mg/kg of SI, rod-dominated ERG responses in BALB/c mice were reduced by more than 50% as compared to baseline. Dark-adapted responses in C57Bl/6J mice were better preserved. Moreover, b-wave amplitudes in C57Bl/6J mice were not statistically different from the baseline level at highest stimulus intensities. At this time point, cone-dominated responses in BALB/c were not different from the baseline at most stimulus intensities. Unexpectedly, C57Bl/6J mice showed ...
Looking for Albinism, ocular? Find out information about Albinism, ocular. The state of having colorless chromatophores, which results in the absence of pigmentation in animals that are normally pigmented. A hereditary, metabolic... Explanation of Albinism, ocular
Albinism in children - What are the chances of a person with albinism passing his problem to their children? X-linked or recesiv. The transmission of albinism will depend on the form involved. A male may have an x-linked or autosomal recessive (ar) form. A female is most likely to have the recessive form. A male would not pass it to his sons but could pass the carrier state to his unaffected daughters who might pass it to her sons. The ar albino only passes a carrier state unless the spouse carries the ar gene.
NOAH is a volunteer organization which provides people with albinism, their families and those that work with them the opportunity to get information, ask questions, share their experiences, and connect with the albinism community. Resources are also available for those doing a report on albino people.
Albinism in Animals - Albinism in animals is rare, but nearly every species can produce offspring with albinism. Learn about albanism in animals.
Albinism consists of a group of inherited abnormalities of melanin synthesis and are typically characterized by a congenital reduction or absence of melanin pigment. Albinism results from defective production of melanin from tyrosine through a complex pathway of metabolic reactions.
Albinism Essay, Research Paper Albinism In the past, albinos were usually treated with fear or awe. They were sometimes killed at birth. Albino births were common enough in some groups not to cause any excitement. For example, among the San Blas Indians of Panama, one in approximately 130 births is an albino.
The past decade has brought news of an atrocity, mainly from Africa: the slaughter of humans with albinism for their body parts for use in ritual magic. Bodies are usually found headless and missing one or more limbs, but sometimes are completely torn apart, missing even internal organs. The reason is, of course, pure unadulterated pseudoscience; we can confidently state that there is no magical benefit to the use of unpigmented body parts, and thats to say nothing of the abhorrence of murder for any purpose. Clearly there are some fictional beliefs out there concerning the nature of people with albinism, and today were going to look at some more of these beliefs that might be held even by those of us who are not into black magic.. But the use of their body parts in ritual magic is the elephant in the room. Arms and legs are the witch doctors preferred bits. They are used as charms and talismans, and other body parts also have magical value, such as hair being sewn into fishing nets to bring ...
www.abinism.org Work Cited Staff, Mayo Clinic. Definition. Mayo Clinic. Mayo Foundation for Medical Education and Research, 02 Apr. 2011. Web. 09 May 2013. ,http://www.mayoclinic.com/health/albinism/DS00941/DSECTION=symptoms,. (affected) http://geneticdisordersp7.wikispaces.com/Albinism http://en.wikipedia.org/wiki/File:Reading_glasses. ...
Humans, animals, and even plants can have albinism, a condition that gives people a kind of pale appearance. Find out more about albinism here.
Humans, animals, and even plants can have albinism, a condition that gives people a kind of . Albinism is a genetic condition where people are born without the usual . So can talking to a counselor or therapist to get ideas on coping with the ...
Webvision summarizes recent advances in knowledge and understanding of the visual system through dedicated chapters and evolving discussion to serve as a clearing house for all things related to retina and vision science.. Contact: [email protected] ...
Albinism is a genetic condition resulting in a lack of pigmentation in the eyes, skin and hair. It is an inherited condition arising from the combination of recessive genes passed from both parents of an individual. A variety of problems with photosensitivity in eyesight and skin usually result from the condition.
Albinism is a genetic condition resulting in a lack of pigmentation in the eyes, skin and hair. It is an inherited condition arising from the combination.
Multiplex Ligation-dependent Probe Amplification (MLPA) for deletuion/ duplication ananlysis , Sequence analysis of the entire coding region Albinism are thetests Panel includes sequence analysis of the following 20 genes: TYR, OCA2, TYPR1, SLC45A2,
Albinism refers to a group of rare inherited disorders that are present from birth. Albinism affects the amount of pigment found in the skin, hair, and eyes. People with albinism usually have little to no pigment in their eyes, skin, and hair, but the degree of pigment loss can be quite variable. There are four types of Albinism:. ...
to keep up on current issues that may be related to my children.. Both children are mainstreamed into a public charter school so I was recently reviewing the "Students with Albinism" section of the Web site. I came upon the question that perked my interest: Does My Student Need Braille? The response on the Web site reads, "Probably not. Most students with albinism have sufficient vision to use standard text, even if they need to use large print text or low vision aides. If your student with albinism is having difficulty reading print or tires of it easily, look into books on tape as an alternative.". I have to admit I was surprised at the belief and attitude NOAHs leadership has taken toward Braille. I feel that its one thing to take a position or give an opinion that most children with albinism will not need Braille (which I dont agree with), but the statement on your Web site could easily mislead parents about educational requirements.. The law clearly states that any visually impaired ...
Partial or complete loss of sight? Inability to see?. Well, thats undefined, but this indefinite definition is a good thing for those of us with Albinism. We all have some form of "partial loss of sight" do we not? This unclear definition of blindness puts us in a large and varied group of people. It places us within a certain community; one in which we can confide and receive guidance, assistance, and understanding. As a community, we need to stand together! This is our place: to encourage, to lead, to inform, and to be a beacon to the world. We have to let the world know that we deserve every opportunity, and we will fight just as hard and harder to turn that opportunity into a life filled with success.. This is my "call to action" to all of you; dont be afraid of who you are; be your own advocate; accomplish everything that you want to accomplish; and when you have done so, dream even bigger. These are our lives.. This site is here for this exact purpose: to bring us together. Feel free to ...
Hope can keep us going when times are at their darkest, but in rare circumstances, hope can be detrimental to progress. Oh, how I know this truth well. I am a huge believer in hope; the eternal optimist most days. But, in this one case, hope broke my heart. ...
Créez votre blog de futurs parents, informez la famille, faîtes-les réagir, et faîtes profiter tous vos amis de ces moments de bonheur !
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Science has a simple faith, which transcends utility. It is the faith that it is the privilege of man to learn to understand, and that this is his mission ...
Hes no lab rat, hes a friendly and lovable mouse! Albino Mouse lightweight mascot costume features snow-white fur, pink eyes, and a friendly face. Comes complete with head, body, hands and feet. This professional-quality Albino Mouse Lightweight Mascot Costume is made to order in the USA. Please allow up to two weeks
Source: Adapted from the National Institutes of Health. What does the term "albino" mean? The term "albino" refers to a person with albinism. To find out more about this term, please search the news section of this website for related articles and information.. ...
Filmmaker: Claudio von Planta Albinism is a non-contagious, genetically inherited disorder, affecting about 1 in 20,000 men and women around the...
Against all odds, Asel and Kamila Kalaganova were born into the same family 12 years apart-both with albinism. And the photographs have taken the world by storm for how beautiful they really are.
"Albinism". MedicinePlus Medical Encyclopedia. United States National Library of Medicine. Retrieved December 11, 2009. Harris, ... Albinism Ariboflavinosis Benzodiazepines (long-term use of or withdrawal from benzodiazepines) Chemotherapy Chikungunya ... Due to albinism, the lack of pigment in the colored part of the eyes (irises) makes them somewhat translucent. This means that ...
Knight, Elizabeth G. (November 1881). "Albinism". Bulletin of the Torrey Botanical Club. 8 (11): 125. JSTOR 2475890. "ELIZABETH ...
OCA2 Albinism, brown; 203290; TYRP1 Albinism, oculocutaneous, type IA; 203100; TYR Albinism, oculocutaneous, type IB; 606952; ... TYR Albinism, oculocutaneous, type II; 203200; OCA2 Albinism, rufous; 278400; TYRP1 Alcohol sensitivity, acute; 610251; ALDH2 ... MITF Waardenburg syndrome/albinism, digenic; 103470; TYR Waardenburg syndrome/ocular albinism, digenic; 103470; MITF Wagner ... TTN Tietz albinism-deafness syndrome; 103500; MITF Timothy syndrome; 601005; CACNA1C Tn syndrome; 300622; C1GALT1C1 Toenail ...
Kameeta has Albinism. His prominent role in society has helped fellow albinism sufferers gain better understanding and ...
"Albinism and Driving". NOAH.org. East Hampstead, NH: National Organization for Albinism and Hypopigmentation. 2002. Retrieved ... East Hampstead, NH: National Organization for Albinism and Hypopigmentation. 2002. Retrieved April 22, 2009. Cerman, E. "Mini- ... especially those with albinism. They can either be a combination of head-mounted eyeglasses (termed the "carrier") and ...
Pigmentation Albinism Amelanism Dyschromia Erythrism Heterochromia iridum Leucism Melanism Piebaldism Skewbald Vitiligo ... Schaible, R H (1979) Chapter 146, Introduction to Hypopigmentation; Chapter 147, Albinism; Chapter 148, Piebaldism; Chapter 149 ...
Albinism Association of Australia. "What is Albinism?". Archived from the original on 2009-09-24. Retrieved 2009-11-02. Rieder ... Type IV oculocutaneous albinism, like other types of human albinism, results in hypopigmentation of the skin and eyes, with ... The gene is best known in humans as being the location of a mutation that results in human type IV oculocutaneous albinism ( ... There also were known health implications of albinism in humans, and cultural prejudices; while a heroic figure such as Roy ...
Davenport CB (1908). "Degeneration, albinism and inbreeding". Science. 28 (718): 454-5. Bibcode:1908Sci....28..454D. doi: ...
Unlike normal albinism, the trait is not recessively inherited in P. pulcher. The trait is incompletely dominant. Like many ... ISBN 3-928819-33-X. James K. Langhammer (1982). "Albinism in Pelvicachromis pulcher". Buntbarsche Bulletin. 93. ...
Albinism is not allowed. The eye color is linked to the skin color. It is always brown, but dogs with light colors can have ...
"Famous People with Albinism". SARA-Foundation.com. Campbell, California: Supporting Albinism Research and Awareness. Archived ... Multiple sources say he had albinism, though many photos show him with dyed-dark hair. Indian classical music portal " The ...
A disqualification is albinism. The muzzle is square-shaped. It may have a melanistic mask, which is most often black. Maskless ...
Oculocutaneous albinism caused by mutations in the OCA2 gene is called oculocutaneous albinism type 2. The prevalence of OCA ... ocular albinism, and Prader-Willi syndrome plus albinism". N. Engl. J. Med. 330 (8): 529-34. doi:10.1056/NEJM199402243300803. ... "OCA2 - oculocutaneous albinism II". Genetics Home Reference - Your guide to understanding genetic conditions. U.S. National ... Certain mutations in OCA2 result in type 2 oculocutaneous albinism. OCA2 encodes the human homologue of the mouse p (pink-eyed ...
"Ocular straylight in albinism". Optom Vis Sc 2011;88:E585-E592 Van Bree MC et al. "Straylight values after refractive surgery ... Lack of pigmentation, e.g. albinism. Laser refractive surgery, with occasional haze formation. Excessive floaters in the ...
Albinism is the mutation of the TYR gene, also termed tyrosinase. This mutation causes the most common form of albinism. The ... Indications of albinism are the absence of color in an organism's eyes, hair, and skin, due to the lack of melanin. Some forms ... "Albinism: MedlinePlus Medical Encyclopedia". medlineplus.gov. Retrieved 2016-11-11. Bearden, Carrie (2016-10-18). "Same DNA ... Other examples of pleiotropy are albinism, sickle cell anemia, and certain forms of autism and schizophrenia. Pleiotropy not ...
Albinism is occasionally recorded. The Italian sparrow is about the same size as the house sparrow at 14-16 centimetres (5.5- ...
He is the first Tanzanian MP with albinism to be elected to parliament. "Member of Parliament CV". Parliament of Tanzania. 2010 ...
Javed, S (1992). "Albinism in little brown dove". Newsletter for Birdwatchers. 32 (3&4): 12. Whistler, Hugh (1949). Popular ...
... albinism has also been recorded. The fur is dense to varying degrees and the hair can grow up to 10 cm in length. The head ...
Albinism and pattern aberrancies are established. It has 19 to 23 rows of smooth scales and a single anal plate. Until noted by ...
Albinism does not exist in horses. LWS foals are born almost or completely white with pink skin, but have blue eyes, not red ...
He was diagnosed with ocular albinism. Skelley took up judo as a sport at the age of five. A successful judoka, he was already ...
... deformations in the skeleton Ocular albinism; lack of pigmentation in the eye Ornithine transcarbamylase deficiency; ...
Albinism has been noted on occasion. The English of white-throated was introduced since the range is large and geographic ...
ISBN 1-56164-409-9. Martin, R.A. Albinism in Sharks. ReefQuest Centre for Shark Research. Retrieved on April 28, 2009. Yano, ...
Purpose: Oculocutaneous albinism (OCA) is an autosomal recessive disorder. The most common type OCA1 and OCA2 are caused by ... Conclusions: This study expands the mutation spectrum of oculocutaneous albinism. It is the first report that c.549_510delGT ... Yun Wang; Mutational analysis of TYR and OCA2 genes in four Chinese families with oculocutaneous albinism. Invest. Ophthalmol. ... Results: Four patients, diagnosed as oculocutaneous albinism, presented with milky skin, white or light brown hair and ...
... t not found in 200 unrelated controls was identified and co-segregated with X-linked ocular albinism (XLOA) in this family. The ... A novel GPR143 mutation in a Chinese family with X-linked ocular albinism type 1. Xu-hui Gao, Tiecheng Liu, +4 authors Mao-nian ... Identification of a Novel Mutation in a Chinese Family with X-Linked Ocular Albinism. Yuanyuan Wang, Xiao-hui Guo, +3 authors ... Molecular genetic and clinical evaluation of three Chinese families with X-linked ocular albinism. Xuan Zou, Hui Li, +4 authors ...
Hermansky-Pudlak syndrome (HPS), consisting of oculocutaneous albinism and a bleeding diathesis due to the absence of platelet ... Recurrent rhabdomyolysis in a patient with oculocutaneous albinism type 1 and platelet storage-pool deficiency. ...
pain in the eye resulting from exposure to bright light (often associated with albinism). Synonyms. *photalgia ... often associated with albinism),type:1,children:[{name:photalgia,type:2},{name:hurting,type:4},{name:pain ...