Oculocutaneous albinism

Oculucutaneous albinism is a disorder widespread all over the world which may concern all ethnic groups as well as vertebrate animals. It is caused by a defective melanin pigment biosynthesis or melanin pigment transport. The distinction to variants of normal pigmentation can be difficult.

In man various heterogenous forms are discriminated, their incidence variies over the world. The most common type in central europe is OCA Type 1 (variants OCA Type 1A or 1B, deficiency of tyrosinase, gene locus 11q14.3). The patients show no or poor pigmentation of skin, iris and retina with resulting sensitiveness of skin and photosensitivity. Other forms of OCA lead to brown or red pigmentation of the hair. OCA Type 2 and 3 are common in the african population.

In the eye there is further a foveal hypoplasia and an abnormal crossing of the optic nerve fibres. This all together causes a complex visual impairment with a vision <30%. Those children so need a special advancement and support (e.g. institutions for visual impairment).

Prophylaxis and treatment in OCA: suncare, filter opthalmic glasses, contact lenses, social integration, individual schooling, helps für reading and writing (computer), consulting the families.

A prenatal diagnosis is possible, provided the mutation is known.