ALBINISM

This week I heard a new about a weird but common illness called albinism, that illness is a genetic deficiency in the production of melanin pigment, which funtion is to give color to eyes, skin and hair . It is an inherited condition, usually as an autosomal recessive but some forms are X-linked, that means that both parents has to be carriers of the deficiency in that way their children could inherit the disease. A number of different chromosomes are involved in the disease,depending of the type, and this disease affects the eyes, hair and skin. Popular opinion is that people with albinism have red eyes, but the colour of the iris varies from grey to blue to brown. The problems are mainly in the ocular system, the common features are nystagmus, photophobia, strabismus and reduced visual activity .

Diagnosis is based on careful history of pigment development and an examination of the skin, hair and eyes. The only type of albinism that has white hair at birth is type 1.

In the management of the eyes problems the visits to ophthalmologists and optometrists can help people with albinism , but they cannot cure them. Normal vision is unusual even with glasses. Young children may simply need glasses, and older children can sometimes benefit from bifocal glasses. However, ordinary glasses or bifocals with a strong reading correction may serve well for many people with albinism.
For photophobia dark glasses are used. There is no proofs that dark glasses will improve vision, even if them are used at a very early age. Many children and adults with albinism do not like glasses, and benefit more from wearing a cap or a visor when outdoors in the sun.