Oculocutaneous Albinism

Overview

Type of disease: Rare conditions

Oculocutaneous albinism is a group of conditions that affect the coloring of the hair and eyes.  Individuals affected by oculocutaneous albinism have very light skin and light-colored irises; they may also have vision problems such as decreased sharpness of vision, rapid eye movements (nystagmus), crossed eyes (strabismus), or increased sensitivity to light (photophobia).  All types of oculocutaneous albinism are caused by gene mutations that are inherited in an autosomal recessive manner.  Treatment includes covering the skin from sun exposure by using sunscreen and protective clothing and attending to vision problems by wearing glasses. Source: Genetic and Rare Diseases Information Center (GARD), supported by ORDR-NCATS and NHGRI.

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