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Ocular albinism in Adult
Other Resources UpToDate PubMed

Ocular albinism in Adult

Contributors: Kristina Voss MD, Deepak Sobti MD
Other Resources UpToDate PubMed


Ocular albinism (OA) is a genetic disease characterized by impaired synthesis of the pigment melanin. There are 3 types of ocular albinism: type 1 (OA1), type 2, and ocular albinism with sensorineural deafness. OA1, also known as Nettleship-Falls syndrome, is the most common form; the other forms are rare.

OA is mainly caused by GPR143 gene mutations on the X chromosome, a gene providing instructions for making a protein responsible for eye and skin pigmentation. Rarely, OA is not caused by mutations in the GPR143 gene. In these specific cases, the cause of the condition has yet to be identified.

OA1 is inherited in an X-linked, autosomal recessive pattern. The classic clinical presenting signs and symptoms of OA1 are more common in males, while female carriers manifest few traits of the disease.

Clinical presentation typically includes a patient presenting with impaired visual acuity, stereoscopic vision, and photophobia. Other associated ocular symptoms include rapid, involuntary eye movements (nystagmus) and eyes that do not look in the same direction (strabismus). Many patients have abnormalities involving the optic nerves. Unlike other types of albinism, OA does not greatly affect skin and hair color. However, individuals with OA typically have a slightly lighter complexion than other family members.


E70.318 – Other ocular albinism

26399002 – Ocular albinism

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Differential Diagnosis & Pitfalls

  • Aland Island eye disease (Forsius-Eriksson syndrome)
  • Cross-McKusick-Breen syndrome
  • Waardenburg syndrome
  • Prader-Willi syndrome
  • Angelman syndrome
  • Vitiligo
  • Congenital nystagmus
  • Achromatopsia
  • Piebaldism
  • Kallmann syndrome
  • Chondrodysplasia punctata
  • Vici syndrome
  • Foveal hypoplasia can be present in aniridia and Retinopathy of prematurity.
  • Pseudoexfoliation syndrome, pigment dispersion syndrome, and Uveitis.

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Last Reviewed:08/29/2017
Last Updated:01/20/2022
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Ocular albinism in Adult
A medical illustration showing key findings of Ocular albinism : Photophobia, Hypopigmented patch, Nystagmus, Strabismus, Vision loss
Clinical image of Ocular albinism - imageId=3164160. Click to open in gallery.
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