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Ocular albinism

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Ocular albinism

Ocular albinism
Classification and external resources
ICD-10 E70.3
ICD-9-CM 270.2
MeSH D016117

Ocular albinism is a form of albinism which, in contrast to oculocutaneous albinism, presents primarily in the eyes.[1] There are multiple forms of ocular albinism, which are clinically similar.[2]:865

Both known genes are on the X chromosome. When the term "autosomal recessive ocular albinism" ("AROA") is used, it usually refers to mild variants of oculocutaneous albinism rather than ocular albinism, which is X-linked.[3]

Types

Name OMIM Gene Description
Ocular albinism, type 1 (OA1) 300500 GPR143 Also known as Nettleship-Falls syndrome,[4][5][6] is the most common variety of ocular albinism. OA1 is usually associated with nystagmus, and difficult to otherwise detect in females; males show more readily observable symptoms.
Ocular albinism, type 2 (OA2) 300600 CACNA1F[7] Also known as Forsius-Eriksson syndrome[8][9] or "Åland Island eye disease", mostly only affects males, though females are often carriers and can sometimes be symptomatic; it is frequently linked with protanopic dichromacy (a form of color blindness) and with night blindness (nyctalopia).
Ocular albinism with sensorineural deafness (OASD) 300650 ? (Xp22.3) Is, as its name implies, associated with loss of hearing. May be the same as OA1.[10]

References

  1. ^
  2. ^ James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology. (10th ed.). Saunders. ISBN 0-7216-2921-0.
  3. ^
  4. ^ synd/990 at Who Named It?
  5. ^ E. Nettleship. On some hereditary diseases of the eye. Transactions of the Ophthalmological Societies of the United Kingdom, 1908-1909, 29: 57-198.
  6. ^ H. F. Falls. Sex-linked ocular albinism displaying typical fundal changes in the female heterozygote. American Journal of Ophthalmology, Chicago, 1951, 34: 41-50.
  7. ^
  8. ^ synd/1336 at Who Named It?
  9. ^
  10. ^

External links

  • GeneReviews/NCBI/NIH/UW entry on Ocular Albinism, X-Linked
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