Chapter 35 - Albinism

Abstract

This chapter discusses albinism, refers to a group of inherited disorders of the pigment system in which there is a reduction or an absence of melanin formation. The abnormality in the formation in melanin can involve the melanocytes in the skin, in the hair follicles, and in the eyes, resulting in oculocutaneous albinism (OCA). The abnormality can be localized to the melanocyte in the eyes resulting in ocular albinism (OA). There are several types of OCA and OA, each presumed to represent a different mutation involving the melanin synthesis pathway. The clinical features and consequences of these mutations appear to be the result of the reduction or absence of melanin. Because of its visibility, the history of albinism is primarily that of OCA. Nystagmus has been considered a requirement for diagnosis of OCA and OA but rare individuals have been reported without nystagmus. The most constant and debilitating symptom of albinism is the reduction in visual acuity. The clinical history is often similar for many types of OCA and OA, and the diagnosis of a specific type is based on the physical examination and the laboratory studies.