Oculocutaneous albinism type 1B

Common Name(s)

Oculocutaneous albinism type 1B

Oculocutaneous albinism type I is an autosomal recessive disorder characterized by absence of pigment in hair, skin, and eyes, and does not vary with race or age. Severe nystagmus, photophobia, and reduced visual acuity are common features. OCA type I is divided into 2 types: type IA, characterized by complete lack of tyrosinase activity due to production of an inactive enzyme, and type IB, characterized by reduced activity of tyrosinase. Although OCA caused by mutations in the TYR gene was classically known as 'tyrosinase-negative' OCA, {12:Tripathi et al. (1992)} noted that some patients with 'tyrosinase-positive' OCA may indeed have TYR mutations resulting in residual enzyme activity. These patients can be classified as having OCA1B.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Oculocutaneous albinism type 1B" for support, advocacy or research.

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General Support Organizations

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Scientific Literature

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Nitisinone for Type 1B Oculocutaneous Albinism
 

Status: Recruiting

Condition Summary: Albinism; Vision Loss

 

Last Updated: 6 Dec 2014

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