Ocular albinism is an inherited condition in which melanin pigment is reduced primarily in the eyes, while skin and hair pigmentation may be near normal. It affects the development of the retina and visual pathways.
Features
People with ocular albinism often have nystagmus, reduced visual acuity, light sensitivity, and characteristic changes in the iris and retina. Misrouting of optic nerve fibres at the chiasm can lead to altered binocular visual processing.
- Commonly inherited in an X-linked pattern, affecting males more than females
- Iris transillumination and reduced retinal pigment are typical examination findings
- Strabismus and reduced stereopsis may occur
- Symptoms are usually stable across life, though functional impact varies
Management
Management focuses on visual optimisation and protection from bright light. Supportive measures include tinted lenses, low vision aids, and educational adjustments.
- Early referral to vision support services benefits affected children
- Sun protection is important because of increased light sensitivity
- Regular monitoring checks for refractive errors and strabismus
- Family counselling explains inheritance patterns and recurrence risks
