Paediatrics
Aniridia: Short Arm 11 Deletion (11p13)
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Defect in the gene for a transcription factor needed for ocular development
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PAX6 gene located on 11p13
- Haploinsufficiency: one normal allele is not enough to activate transduction of the genes regulated by PAX6
- Therefore autosomal dominant
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Ocular findings
- Reduced VA
- Nystagmus
- Strabismus
- Corneal pannus: due to limbal stem cell deficiency
- Cataracts (congenital)
- Ectopia lentis
- Glaucoma: congenital agenesis of angle structures
- Optic nerve, foveal/macular, iris hypoplasia
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WAGR syndrome: contiguous gene deletion syndrome
- Wilm’s tumour: associated more with the sporadic form of aniridia therefore in these cases an abdominal ultrasound is mandatory
- Aniridia
- Genitourinary abnormalities
- (Mental) retardation