Two novel splice mutations of P gene in a Thai-Chinese patient with oculocutaneous albinism type II (OCA2)

Abstract

Oculocutaneous albinism (OCA) is an autosomal recessive disorder characterized by reduced or absent melanin synthesis in skin, hair, and eyes, associated with nystagmus, reduced iris and retinal pigment, foveal hypoplasia with significantly reduced visual acuity, and misrouting of the optic nerves. OCA is divided into four subtypes. Individuals with OCA1A have white hair, white skin that does not tan, and fully translucent irises that do not darken with age. For individuals with OCA1B, their white/light yellow hair and white skin can darken over time, and blue irises can change to green/hazel or brown/tan. Newborns with OCA2 have hair pigment ranging from light yellow to blond to brown and may darken with age. OCA3 is characterized by the presence of red reflex on transillumination of the iris and nystagmus. Clinical manifestations of OCA4 significantly overlap with OCA2 [ [1] Inagaki K. Suzuki T. Shimizu H. et al. Oculocutaneous albinism type 4 is one of the most common types of albinism in Japan. Am J Hum Genet. 2004; 74: 466-471 Abstract Full Text Full Text PDF PubMed Scopus (119) Google Scholar ].