Albinism
Overview
Albinism affects the production of melanin, the pigment that colours skin, hair and eyes. It's a lifelong condition, but it does not get worse over time.
Symptoms
Very pale skin susceptible to sunburn; white to brown hair; pale blue, gray, or brown eyes that may appear reddish. Vision problems: nystagmus, light sensitivity, poor eyesight, astigmatism, strabismus.
Causes
Inherited genetic disorder from mutations in genes responsible for melanin production. Usually autosomal recessive (needs two copies of mutated gene). Ocular albinism is X-linked.
Treatment
Although there's no cure for the eye problems caused by albinism, there are a number of treatments, such as glasses and contact lenses, that can improve vision. A child with albinism may also need extra help and support at school.
Prevention
Cannot be prevented as genetic. Genetic counseling available for families. Focus on preventing skin damage and vision complications.
When to see a doctor
Regular eye exams essential. See doctor for any skin changes or new moles. Genetic counseling recommended for family planning.