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Ocular albinism
Pediatric Ophthalmology
Key Points
- •Albinism is characterised by the classic triad: nystagmus, foveal hypoplasia, and iris transillumination - the most common identifiable cause of sensory defect nystagmus
- •VEP crossed asymmetry (contralateral hemisphere dominance on monocular stimulation) is pathognomonic of chiasmal misrouting in albinism - the definitive diagnostic test
- •OCT shows foveal hypoplasia - inner retinal layers persist through the fovea (graded 1–4); severity correlates with visual acuity
- •Hermansky-Pudlak syndrome: albinism + bleeding diathesis (absent dense bodies in platelets) + pulmonary fibrosis - must screen before any surgery
- •Management is supportive: full refractive correction, tinted lenses for photophobia, low vision aids, lifelong photoprotection (sunscreen + protective clothing), and genetic counselling
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Keep reading Ocular albinism
17 more sections are included with the Clinical plan.
- Definition
- Epidemiology
- Aetiology and causes
- Pathogenesis
- Classification
- Risk factors and associations