Medicine:Ocular albinism
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| Ocular albinism |
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Ocular albinism is a form of albinism which, in contrast to oculocutaneous albinism, presents primarily in the eyes.[1] There are multiple forms of ocular albinism, which are clinically similar.[2]: 865
Both known genes are on the X chromosome. When the term "autosomal recessive ocular albinism" ("AROA") is used, it usually refers to mild variants of oculocutaneous albinism rather than ocular albinism, which is X-linked.[3]
Types
| Name | OMIM | Gene | Description |
| Ocular albinism, type 1 (OA1) | Online Mendelian Inheritance in Man (OMIM) 300500 | GPR143 | Also known as Nettleship–Falls syndrome,[4][5][6] is the most common variety of ocular albinism. OA1 is usually associated with nystagmus, and difficult to otherwise detect in females; males show more readily observable symptoms. |
References
- ↑ "Ocular albinism - Genetics Home Reference". http://ghr.nlm.nih.gov/condition=ocularalbinism.
- ↑ James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology. (10th ed.). Saunders. ISBN 0-7216-2921-0.
- ↑ "A comprehensive genetic study of autosomal recessive ocular albinism in Caucasian patients". Invest. Ophthalmol. Vis. Sci. 49 (3): 868–72. March 2008. doi:10.1167/iovs.07-0791. PMID 18326704.
- ↑ synd/990 at Who Named It?
- ↑ E. Nettleship. On some hereditary diseases of the eye. Transactions of the Ophthalmological Societies of the United Kingdom, 1908-1909, 29: 57-198.
- ↑ H. F. Falls. Sex-linked ocular albinism displaying typical fundal changes in the female heterozygote. American Journal of Ophthalmology, Chicago, 1951, 34: 41-50.
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