Oculocutaneous albinism

Oculocutaneous albinism
Other namesOCA
SpecialtyOphthalmology, dermatology Edit this on Wikidata

Oculocutaneous albinism is a form of albinism involving the eyes (oculo-), the skin (-cutaneous), and the hair.[1] Overall, an estimated 1 in 20,000 people worldwide are born with oculocutaneous albinism.[1] OCA is caused by mutations in several genes that control the synthesis of melanin within the melanocytes.[2] Seven types of oculocutaneous albinism have been described, all caused by a disruption of melanin synthesis and all autosomal recessive disorders.[3][4][5]: 864  Oculocutaneous albinism is also found in non-human animals.

  1. ^ a b "Oculocutaneous albinism". Genetics Home Reference. U.S. National Library of Medicine. Retrieved 5 August 2020.
  2. ^ "Orphanet: Oculocutaneous albinism". Orphanet.
  3. ^ "OMIM Entry - #615179 - ALBINISM, OCULOCUTANEOUS, TYPE VII; OCA7". Online Mendelian Inheritance in Man. Johns Hopkins University. Retrieved 16 June 2020.
  4. ^ Grønskov K, Ek J, Brondum-Nielsen K (2007). "Oculocutaneous albinism". Orphanet Journal of Rare Diseases. 2. Article 43. doi:10.1186/1750-1172-2-43. PMC 2211462. PMID 17980020.
  5. ^ James WD, Berger T, Elston DM (2005). Andrews' Diseases of the Skin: Clinical Dermatology (10 ed.). Saunders. ISBN 0-7216-2921-0.