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Ophthalmology · Uvea: aniridia
Sample itemA child with absent iris and sporadic aniridia is at risk of which tumour, and which chromosomal region is involved?
Original practice item, not a recalled exam question. Nothing here is recorded.
The answer and the reasoning
A. Wilms tumour, deletion of 11p13
WAGR syndrome has Wilms tumour, aniridia, genitourinary anomalies and mental retardation due to deletion at 11p13 including PAX6 and WT1. Such children need regular abdominal ultrasound.
Option by option
A. Wilms tumour, deletion of 11p13 (correct)
Correct. Sporadic aniridia needs Wilms tumour surveillance.
B. Optic glioma, NF1
NF1 gives Lisch nodules and optic glioma.
C. Retinoblastoma, deletion of 13q14
13q14 deletion relates to retinoblastoma.
D. Neuroblastoma, MYCN amplification
MYCN is in neuroblastoma, not aniridia.
Source note: Original NextPrep sample item — pending expert review. This item is original practice material awaiting independent expert review, so confirm important facts in a standard textbook.
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