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oculocutaneous albinism

Medical Definition

Heterogeneous group of autosomal recessive disorders comprising at least four recognized types, all having in common varying degrees of hypopigmentation of the skin, hair, and eyes. the two most common are the tyrosinase-positive and tyrosinase-negative types.

Wikipedia Summary

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 several genes that control the synthesis of melanin within the melanocytes. Seven types of oculocutaneous albinism have been described, all caused by a disruption of melanin synthesis and all autosomal recessive disorders.: 864  Oculocutaneous albinism is also found in non-human animals..
Related Codes (5)
Code
Description
Billable
Details
E70.32Oculocutaneous albinism
Type 1 Excludes (2)
E70.328Other oculocutaneous albinism
E70.320Tyrosinase negative oculocutaneous albinism
E70.321Tyrosinase positive oculocutaneous albinism
E70.329Oculocutaneous albinism, unspecified

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