타이로시나제 유전자 돌연변이를 동반한 눈피부백색증 1A형

Abstract

Oculocutaneous albinism (OCA) is a heterogeneous autosomal recessive disorder with reduction or complete absence of melanin in the skin, hair, eyes and combined with eye disorder, such as nystagmus and strabismus. OCA is including four types, from OCA 1 to OCA 4. OCA 1 is the most frequent, and produced by the loss of function of melanocytic enzyme tyrosinase, resulting from mutations of the tyrosinase (TYR) gene. We report a case of 2-year-old Korean toddler OCA 1A patient with white skin, hair, eyelashes, and eyebrows. TYR gene mutation, fully translucent pinkish irises, with skin that does not tan, was also observed.