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Ocular albinism in Adult
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Ocular albinism in Adult

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Contributors: Kristina Voss MD, Deepak Sobti MD
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Synopsis

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.

For more information on OA1, see OMIM.

Codes

ICD10CM:
E70.318 – Other ocular albinism

SNOMEDCT:
26399002 – Ocular albinism

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Last Reviewed: 08/30/2017
Last Updated: 08/30/2017
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Ocular albinism in Adult
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Ocular albinism : Photophobia, Hypopigmented patch, Nystagmus, Strabismus, Vision loss
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