Medicine:Ocular albinism

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Ocular albinism

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]


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.


  1. "Ocular albinism - Genetics Home Reference". 
  2. James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology. (10th ed.). Saunders. ISBN:0-7216-2921-0.
  3. "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. Retrieved 2008-06-02. 
  4. synd/990 at Who Named It?
  5. E. Nettleship. On some hereditary diseases of the eye. Transactions of the Ophthalmological Societies of the United Kingdom, 1908-1909, 29: 57-198.
  6. 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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