Oculocutaneous albinism

✍ Scribed by JF Okulicz; RS Shah; RA Schwartz; CK Janniger

• Book ID: 104470351
• Publisher: John Wiley and Sons
• Year: 2003
• Tongue: English
• Weight: 123 KB
• Volume: 17
• Category: Article
• ISSN: 0926-9959
• DOI: 10.1046/j.1468-3083.2003.00767.x

✦ Synopsis

ABSTRACT

Oculocutaneous albinism represents a group of inherited skin disorders characterized by a generalized reduction of cutaneous, ocular and pilar pigmentation from the time of birth. Oculocutaneous albinism types 1 and 2 are the most common, but several other types have been described. A defect in the melanin synthesis pathway, resulting in reduced formation of melanin, is responsible for oculocutaneous albinism. Aetiology, clinical manifestations, diagnosis and management are discussed.