Oculo-Cutaneous and syndromic albinisms: Epidemiology, clinical spectrum and diagnosis.

Abstract excerpt

BACKGROUND AND OBJECTIVES: Oculo-Cutaneous Albinism and Ocular Albinism are worldwide autosomal and X-linked recessive disorders, respectively, resulting from mutations in at least 21 genes that affect melanin production or transport in the skin, hair and eyes. The purpose of this review is to assist clinicians in recognizing its main clinical manifestations. The review is structured into three main sections:...

Topics

• Humans
• Chediak-Higashi Syndrome
• Albinism, Oculocutaneous
• Hermanski-Pudlak Syndrome
• Albinism, Ocular
• Mutation
• Syndrome