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 reddish pink or blue eyes. Individuals with the condition are referred to as albinos.
Varied use and interpretation of ...
which, in contrast to
oculocutaneous albinism
Oculocutaneous albinism is a form of Albinism in humans, albinism involving the human eye, eyes (''wikt:oculo-#Prefix, oculo-''), the human skin, skin (''-wikt:cutaneous#Adjective, cutaneous''), and the hair.
Overall, an estimated 1 in 20,000 peo ...
, 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 chromosomes in many organisms, including mammals, and is found in both males and females. It is a part of the XY sex-determination system and XO sex-determination system. The X chromosome was named for its u ...
. When the term ''"autosomal recessive ocular albinism"'' ("AROA") is used, it usually refers to mild variants of
oculocutaneous albinism
Oculocutaneous albinism is a form of Albinism in humans, albinism involving the human eye, eyes (''wikt:oculo-#Prefix, oculo-''), the human skin, skin (''-wikt:cutaneous#Adjective, cutaneous''), and the hair.
Overall, an estimated 1 in 20,000 peo ...
rather than ocular albinism, which is ''X-linked''.
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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