Ocular albinism is a form of

albinism Albinism is the congenital absence of melanin in an animal or plant resulting in white hair, feathers, scales and skin and pink or blue eyes. Individuals with the condition are referred to as albino. Varied use and interpretation of the term ...

which, in contrast to

oculocutaneous albinism Oculocutaneous albinism is a form of albinism involving the eyes ('' oculo-''), the skin (''-cutaneous''), and the hair. Overall, an estimated 1 in 20,000 people worldwide are born with oculocutaneous albinism. OCA is caused by mutations in seve ...

, presents primarily in the eyes. There are multiple forms of ocular albinism, which are clinically similar.James, William; Berger, Timothy; Elston, Dirk (2005). ''Andrews' Diseases of the Skin: Clinical Dermatology''. (10th ed.). Saunders. . Both known genes are on the

X chromosome The X chromosome is one of the two sex-determining chromosomes (allosomes) in many organisms, including mammals (the other is the Y chromosome), and is found in both males and females. It is a part of the XY sex-determination system and XO sex ...

. When the term ''"autosomal recessive ocular albinism"'' ("AROA") is used, it usually refers to mild variants of

rather than ocular albinism, which is ''X-linked''. __TOC__

Types

References

External links

GeneReviews/NCBI/NIH/UW entry on Ocular Albinism, X-Linked
{{DEFAULTSORT:Ocular Albinism Albinism Amino acid metabolism disorders X-linked recessive disorders