Oculocutaneous albinism is a group of inherited conditions characterised by reduced or absent melanin pigment in the skin, hair, and eyes. It affects visual development as well as physical appearance.
Ocular and Systemic Features
Eye findings include nystagmus, reduced visual acuity, light sensitivity, and foveal underdevelopment, while systemic features involve pale skin and light hair that burn easily in sunlight. Misrouting of visual pathways at the optic chiasm is similar to that seen in ocular albinism.
- Usually inherited in an autosomal recessive pattern
- Risk of sunburn and skin cancer is increased because of low pigmentation
- Strabismus and reduced depth perception are common
- Visual acuity is typically reduced from early childhood
Management
Management combines dermatological and ophthalmic care, with emphasis on sun protection and visual support. Wide-brimmed hats, high-factor sunscreen, and UV-protective clothing are recommended alongside tinted lenses and low vision aids.
- Regular skin checks help detect early signs of sun damage
- Educational planning ensures appropriate seating, print size, and lighting
- Genetic counselling can clarify recurrence risk and available testing
- Psychosocial support may help individuals and families adjust to visible differences
