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Xu, R. Ocular Albinism. Encyclopedia. Available online: https://encyclopedia.pub/entry/4639 (accessed on 27 September 2026).
Xu R. Ocular Albinism. Encyclopedia. Available at: https://encyclopedia.pub/entry/4639. Accessed September 27, 2026.
Xu, Rita. "Ocular Albinism" Encyclopedia, https://encyclopedia.pub/entry/4639 (accessed September 27, 2026).
Xu, R. (2020, December 24). Ocular Albinism. In Encyclopedia. https://encyclopedia.pub/entry/4639
Xu, Rita. "Ocular Albinism." Encyclopedia. Web. 24 December, 2020.
Ocular Albinism
Edit
This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/condition/ocular-albinism

Ocular albinism is a genetic condition that primarily affects the eyes. This condition reduces the coloring (pigmentation) of the iris, which is the colored part of the eye, and the retina, which is the light-sensitive tissue at the back of the eye. Pigmentation in the eye is essential for normal vision.

genetic conditions

References

  1. Camand O, Boutboul S, Arbogast L, Roche O, Sternberg C, Sutherland J, Levin A,Héon E, Menasche M, Dufier J, Abitbol M. Mutational analysis of the OA1 gene inocular albinism. Ophthalmic Genet. 2003 Sep;24(3):167-73.
  2. Cortese K, Giordano F, Surace EM, Venturi C, Ballabio A, Tacchetti C, MarigoV. The ocular albinism type 1 (OA1) gene controls melanosome maturation and size.Invest Ophthalmol Vis Sci. 2005 Dec;46(12):4358-64.
  3. Lewis RA. Ocular Albinism, X-Linked. 2004 Mar 12 [updated 2015 Nov 19]. In:Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A,editors. GeneReviews® [Internet]. Seattle (WA): University of Washington,Seattle; 1993-2020. Available from http://www.ncbi.nlm.nih.gov/books/NBK1343/
  4. Oetting WS. New insights into ocular albinism type 1 (OA1): Mutations andpolymorphisms of the OA1 gene. Hum Mutat. 2002 Feb;19(2):85-92. Review.
  5. Tak WJ, Kim MN, Hong CK, Ro BI, Song KY, Seo SJ. Ocular albinism withsensorineural deafness. Int J Dermatol. 2004 Apr;43(4):290-2.
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Subjects: Genetics & Heredity
Contributor MDPI registered users' name will be linked to their SciProfiles pages. To register with us, please refer to https://encyclopedia.pub/register : Rita Xu
View Times: 926
Entry Collection: MedlinePlus
Revision: 1 time (View History)
Update Date: 24 Dec 2020
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