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Oculocutaneous albinism

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.

Types

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

See also

References

  1. ^ a b c "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.
  6. ^ "OMIM Entry - #203100 - ALBINISM, OCULOCUTANEOUS, TYPE IA; OCA1A". Mendelian Inheritance in Man. Johns Hopkins University. Retrieved 5 August 2020.
  7. ^ a b "OMIM Entry - #606952 - ALBINISM, OCULOCUTANEOUS, TYPE IB; OCA1B". Mendelian Inheritance in Man. Johns Hopkins University. Retrieved 5 August 2020.
  8. ^ Mendez, Rodrigo; Iqbal, Sumaiya; Vishnopolska, Sebastián; Martinez, Cinthia; Dibner, Glenda; Aliano, Rocio; Zaiat, Jonathan; Biagioli, Germán; Fernandez, Cecilia; Turjanski, Adrian; Campbell, Arthur J.; Mercado, Graciela; Marti, Marcelo A. (18 February 2021). "Oculocutaneous albinism type 1B associated with a functionally significant tyrosinase gene polymorphism detected with Whole Exome Sequencing". Ophthalmic Genetics. 42 (3): 291–295. doi:10.1080/13816810.2021.1888129. ISSN 1381-6810. PMID 33599182. S2CID 231953047.
  9. ^ a b King RA, Summers G, Haefemeyer JW, LeRoy B (2009). "Facts about Albinism". Archived from the original on 15 February 2009.
  10. ^ Giebel LB, Tripathi RK, King RA, Spritz RA (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. 87 (3): 1119–1122. doi:10.1172/JCI115075. PMC 329910. PMID 1900309.
  11. ^ Peracha MO, Eliott D, Garcia-Valenzuela E (13 September 2005). Gordon K 3rd, Talavera F, Rowsey JJ, Brown LL, Roy H Sr (eds.). "Ocular Manifestations of Albinism". eMedicine. WebMD. Archived from the original on 9 June 2007. Retrieved 31 March 2007.
  12. ^ a b c d Boissy RE, Nordlund JJ (22 August 2005). Ortonne JP, Vinson RP, Perry V, Gelfand JM, James WD (eds.). "Albinism". eMedicine. WebMD. Archived from the original on 8 June 2007. Retrieved 31 March 2007.
  13. ^ "OMIM Entry - #203200 - ALBINISM, OCULOCUTANEOUS, TYPE II; OCA2". Mendelian Inheritance in Man. Johns Hopkins University. Retrieved 5 August 2020.
  14. ^ "OMIM Entry - #203290 - ALBINISM, OCULOCUTANEOUS, TYPE III; OCA3". Mendelian Inheritance in Man. Johns Hopkins University. Retrieved 5 August 2020.
  15. ^ "OMIM Entry - #606574 - ALBINISM, OCULOCUTANEOUS, TYPE IV; OCA4". Mendelian Inheritance in Man. Johns Hopkins University. Retrieved 5 August 2020.
  16. ^ Rundshagen U, Zühlke C, Opitz S, Schwinger E, Käsmann-Kellner B (February 2004). "Mutations in the MATP gene in five German patients affected by oculocutaneous albinism type 4". Human Mutation. 23 (2): 106–110. doi:10.1002/humu.10311. PMID 14722913. S2CID 40612241.
  17. ^ "OMIM Entry - #615312 - ALBINISM, OCULOCUTANEOUS, TYPE V; OCA5". Mendelian Inheritance in Man. Johns Hopkins University. Retrieved 5 August 2020.
  18. ^ a b c Montoliu L, Grønskov K, Wei A, Martínez-García M, Fernández A, Arveiler B, Morice-Picard F, Riazuddin S, Suzuki T, Ahmed Z, Rosenberg T, Li W (January 2014). "Increasing the complexity: new genes and new types of albinism". Pigment Cell & Melanoma Research. 27 (1): 11–18. doi:10.1111/pcmr.12167. PMID 24066960.
  19. ^ "OMIM Entry - #113750 - ALBINISM, OCULOCUTANEOUS, TYPE VI; OCA6". Mendelian Inheritance in Man. Johns Hopkins University. Retrieved 5 August 2020.
  20. ^ "OMIM Entry - #615179 - ALBINISM, OCULOCUTANEOUS, TYPE VII; OCA7". Mendelian Inheritance in Man. Johns Hopkins University. Retrieved 5 August 2020.

External links