Can you spot diagnose this?
Photo of 3 yo boy with undilated pupil (there’s no photoshop in here).
+ Click here for answer.
A: Axenfled-Rieger anomaly
This 3 yo child initially presented with an eccentric pupil (corectopia) at 18 months old. Over time, hypoplasia of iris occurs and the pupil margin becomes irregular with uveal ectropian.
Axenfeld-Rieger anomaly is consist of a wide spectrum of developmental disorders ranging from posterior embryotoxon, iris hypoplasia to significant anterior segment dysgenesis. Pupil maybe found to be eccentric initially and progressive thinner occurs causing uveal ectropian or formation of iris hole/ second pupil (polycoria).
It is a genetic disorder with autosomal dominant inheritance being the most common cause. Mutation in PITX 2 and FOXC1 have found to be associated with the syndrome.
What do you need to look out for?
Glaucoma can develop in up to 50% of people with Axenfeld-Rieger anomaly.
6 monthly IOP monitoring is necessary.