Ocular albinism type 1

Overview

Type of disease: Rare conditions

Ocular albinism type 1 is a genetic condition that primarily affects the eyes. Signs and symptoms may include reduced coloring (pigment) of the iris and retina, poor vision, poor depth perception, rapid, involuntary eye movements, eyes that do not look in the same direction (strabismus), and increased eye sensitivity to light. Type 1 is the most common form of ocular albinism and is found much more commonly in males. It is usually caused by mutations in the GPR143 gene which is found on the X chromosome. Source: Genetic and Rare Diseases Information Center (GARD), supported by ORDR-NCATS and NHGRI.

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