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Aniridia
Pediatric Ophthalmology
Key Points
- •Aniridia is a panocular developmental disorder caused by PAX6 mutations on chromosome 11p13; the iris defect is just one component of a multisystem eye disease
- •Foveal hypoplasia (not the iris defect) is the primary cause of reduced visual acuity in aniridia - VA typically 6/18 to 6/60
- •All sporadic aniridia cases must be screened for 11p13 contiguous deletion (PAX6 + WT1) to identify WAGR syndrome and the 50% risk of Wilms tumour
- •Glaucoma develops in 50–75% of aniridia patients and is often refractory to medical therapy; regular IOP monitoring from birth is mandatory
- •Aniridia-associated keratopathy (AAK) from limbal stem cell deficiency is progressive and virtually universal - conventional PK without limbal stem cell transplant will fail
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17 more sections are included with the Clinical plan.
- Definition
- Epidemiology
- Aetiology and causes
- Pathogenesis
- Classification
- Risk factors and associations