Specialty endocrinology ICD-9-CM 270.2 | ICD-10 E70.3 MeSH D016115 | |
OMIM 203100 203200 203290 606574 GeneReviews Oculocutaneous Albinism Type 1Oculocutaneous Albinism Type 2Oculocutaneous Albinism Type 4 | ||
Oculocutaneous albinism (OCA) is a form of albinism involving the eyes (oculo-), the skin (-cutaneous), and according to some definitions, the hair. Overall, an estimated 1 in 20,000 people worldwide are born with oculocutaneous albinism. OCA is caused by mutations in several genes that control the synthesis of melanin within the melanocytes. Four types of oculocutaneous albinism have been described, all caused by a disruption of melanin synthesis and all autosomal recessive disorders.
References
Oculocutaneous albinism Wikipedia(Text) CC BY-SA