Ocular and Oculocutaneous Albinism: Pathogenesis, Diagnosis, and Treatment

Oculocutaneous albinism (OCA) is the common name of a group of hereditary diseases accompanied by disorders in the production of melanin pigment and affect the hair, skin, and eyes. Besides being responsible for pigmentation, melanin acts as a barrier against the harmful effects of ultraviolet (UV) light. Individuals with pigment deficiency are at risk for the development of disorders such as visual impairment and nystagmus, as well as the development of skin cancer depending on the type of disease and therefore the degree of pigmentation. The diagnosis of OCA is mainly based on dermatological and biomicroscopic examination. Although there is no specific treatment method for ocular or oculocutaneous albinism today, treatments to improve patients' quality of life and protective measures are important.