O OftalmopediaAn open ophthalmology reference ⌕

Ocular albinism

AI overview

Ocular albinism is a form of albinism which, in contrast to oculocutaneous albinism, presents primarily in the eyes.

Key points
  • There are multiple clinically similar forms of ocular albinism.
    source quote
    There are multiple forms of ocular albinism, which are clinically similar.
  • Both known genes for ocular albinism are on the X chromosome.
    source quote
    Both known genes are on the X chromosome .
  • Ocular albinism is X-linked, unlike autosomal recessive ocular albinism (AROA) which refers to mild variants of oculocutaneous albinism.
    source quote
    rather than ocular albinism, which is X-linked .
  • Ocular albinism type 1 (OA1), also known as Nettleship–Falls syndrome, is the most common variety.
    source quote
    is the most common variety of ocular albinism.
Symptoms
  • The condition presents primarily in the eyes.
    source quote
    presents primarily in the eyes .
  • OA1 is usually associated with nystagmus.
    source quote
    OA1 is usually associated with nystagmus
  • Males show more readily observable symptoms in OA1, while it is difficult to otherwise detect in females.
    source quote
    males show more readily observable symptoms.
  • OA2 is frequently linked with protanopic dichromacy (color blindness) and night blindness (nyctalopia).
    source quote
    it is frequently linked with protanopic dichromacy (a form of color blindness ) and with night blindness ( nyctalopia ).
  • Ocular albinism with sensorineural deafness (OASD) is associated with loss of hearing.
    source quote
    associated with loss of hearing .
AI-synthesized from the Wikipedia article “Ocular albinism”. Not medical advice. Verify source →
Ocular albinism
SpecialtyEndocrinology 

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]


NameOMIMGeneDescription
Ocular albinism, type 1 (OA1) 300500GPR143Also 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) 300600CACNA1F[7]Also known as [8][9] or "Åland eye disease", mostly 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]

  1. ↑ "Ocular albinism - Genetics Home Reference". Archived from the original on July 17, 2007.
  2. ↑ James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology. (10th ed.). Saunders. ISBN 0-7216-2921-0.
  3. ↑ Hutton SM, Spritz RA (March 2008). "A comprehensive genetic study of autosomal recessive ocular albinism in Caucasian patients". Invest. Ophthalmol. Vis. Sci. 49 (3): 868–72. doi:10.1167/iovs.07-0791. PMID 18326704.
  4. ↑ synd/990 at Whonamedit?
  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. ↑ Jalkanen R, Bech-Hansen NT, Tobias R, et al. (June 2007). "A novel CACNA1F gene mutation causes Aland Island eye disease". Invest. Ophthalmol. Vis. Sci. 48 (6): 2498–502. doi:10.1167/iovs.06-1103. PMID 17525176.
  8. ↑ synd/1336 at Whonamedit?
  9. ↑ Forsius H, Eriksson AW (April 1964). "[A new eye syndrome with X-chromosomal transmission. a family clan with fundus albinism, fovea hypoplasia, nystagmus, myopia, astigmatism and dyschromatopsia.]". Klin Monatsbl Augenheilkd (in German). 144: 447–57. PMID 14230113.
  10. ↑ Winship IM, Babaya M, Ramesar RS (November 1993). "X-linked ocular albinism and sensorineural deafness: linkage to Xp22.3". Genomics. 18 (2): 444–5. doi:10.1006/geno.1993.1495. PMID 8288253.