Oculocutaneous albinism is a form of albinism that involves the eyes, the skin and the hair. An estimated 1 in 20,000 people worldwide are born with it. It is caused by mutations in several genes that control the synthesis of melanin within melanocytes. Seven types have been described, all resulting from a disruption of melanin synthesis and all inherited as autosomal recessive disorders. The condition is also found in non-human animals. The name is built from the parts of the body affected, with oculo referring to the eyes and cutaneous to the skin.
Facts
Classification
ICD-10 ChapterIV: Endocrine, Nutritional and Metabolic Diseases 2 Communicable or Non-communicable Causative Agent
Causative Agent (category) Sources
1. Oculocutaneous albinism (Wikipedia)
Lead paragraph
all autosomal recessive disorders
Lead paragraph [body-system]
the skin (-cutaneous), and the hair
Lead paragraph [body-system 2]
involving the eyes (oculo-)
Lead: disease category
OCA is caused by mutations in several genes that control the synthesis of melanin within the melanocytes.
View the Source2. World Health Organization: ICD-10 Version:2019 - E70.3
World Health OrganizationICD-10 2019 category E70.3, Chapter IVQuote, ICD-10 2019 category E70.3, Chapter IV
E70.3 Albinism Incl.: Albinism: ocular oculocutaneous
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