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Oculocutaneous albinism

Form of albinism

Form of albinism

FieldValue
synonymsOCA

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. Seven types of oculocutaneous albinism have been described, all caused by a disruption of melanin synthesis and all autosomal recessive disorders. Oculocutaneous albinism is also found in non-human animals.

Types

The following types of oculocutaneous albinism have been identified in humans.

References

References

  1. "Oculocutaneous albinism". [[U.S. National Library of Medicine]].
  2. "Orphanet: Oculocutaneous albinism". Orphanet.
  3. "OMIM Entry - #615179 - ALBINISM, OCULOCUTANEOUS, TYPE VII; OCA7". [[Johns Hopkins University]].
  4. (2007). "Oculocutaneous albinism". Orphanet Journal of Rare Diseases.
  5. (2005). "Andrews' Diseases of the Skin: Clinical Dermatology". Saunders.
  6. "OMIM Entry - #203100 - ALBINISM, OCULOCUTANEOUS, TYPE IA; OCA1A". [[Johns Hopkins University]].
  7. "OMIM Entry - #606952 - ALBINISM, OCULOCUTANEOUS, TYPE IB; OCA1B". [[Johns Hopkins University]].
  8. (18 February 2021). "Oculocutaneous albinism type 1B associated with a functionally significant tyrosinase gene polymorphism detected with Whole Exome Sequencing". Ophthalmic Genetics.
  9. (2009). "Facts about Albinism".
  10. (March 1991). "A tyrosinase gene missense mutation in temperature-sensitive type I oculocutaneous albinism. A human homologue to the Siamese cat and the Himalayan mouse". The Journal of Clinical Investigation.
  11. (13 September 2005). "Ocular Manifestations of Albinism". [[WebMD]].
  12. (22 August 2005). "Albinism". [[WebMD]].
  13. "OMIM Entry - #203200 - ALBINISM, OCULOCUTANEOUS, TYPE II; OCA2". [[Johns Hopkins University]].
  14. "OMIM Entry - #203290 - ALBINISM, OCULOCUTANEOUS, TYPE III; OCA3". [[Johns Hopkins University]].
  15. "OMIM Entry - #606574 - ALBINISM, OCULOCUTANEOUS, TYPE IV; OCA4". [[Johns Hopkins University]].
  16. (February 2004). "Mutations in the MATP gene in five German patients affected by oculocutaneous albinism type 4". Human Mutation.
  17. "OMIM Entry - #615312 - ALBINISM, OCULOCUTANEOUS, TYPE V; OCA5". [[Johns Hopkins University]].
  18. (January 2014). "Increasing the complexity: new genes and new types of albinism". Pigment Cell & Melanoma Research.
  19. "OMIM Entry - #113750 - ALBINISM, OCULOCUTANEOUS, TYPE VI; OCA6". [[Johns Hopkins University]].
  20. "OMIM Entry - #615179 - ALBINISM, OCULOCUTANEOUS, TYPE VII; OCA7". [[Johns Hopkins University]].
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