Albinism is a group of genetic conditions with reduced or absent melanin pigment in the skin, hair, and eyes. Ocular involvement leads to characteristic visual problems.
Ocular features
Misrouting of optic nerve fibres contributes to visual deficits.
- Nystagmus, reduced visual acuity, and photophobia
- Iris transillumination and hypopigmented fundus
- Foveal hypoplasia and reduced stereopsis
- May occur with or without significant skin involvement depending on type
Management
There is no cure, but supportive care can markedly improve function.
- Tinted glasses or filters to reduce glare
- Glasses for refractive errors and low-vision aids for detail tasks
- Sun protection to reduce skin cancer risk
- Educational support and orientation and mobility training when needed
