A Case of Oculocutaneous Albinism

ABSTRACT

Oculocutaneous albinism resulting from genetic defect of melanin synthesizing system is characterized by pale skin, straw-colored hair, hypopigmentation of the iris, hypoplasia of fovea, photophobia, low visual acuity and strabismus. In general, oculocutaneous albinism can be distinguished by its clinical feature and hair follicle incubation test but should be diagnosed by electron microscopic findings of the skin which is exposed to sunlight. We experienced a case of 6-year-old female oculocutaneous albinism that showed clinical typical features and was diagnosed through electron microscopic finding of many immature melanosomes of the skin in the back of the hand. We report this unusual case with literature review.