Hypoplasia of the iris: The aniridia spectrum
An eleven-month-old boy was seen because of nystagmus and suspected cataract. An initial impression of Rieger's anomaly was corrected to a diagnosis of aniridia syndrome type II after an examination under anesthesia revealed radial iris stromal defects, hypoplasia of the pupillary sphincter, no anterior chamber angle abnormalities, sectorial cataracts and foveal hypoplasia. Another infant presented with large unreactive and irregular pupils. There was no nystagmus and the fundus examination was normal except for foveal hypoplasia. Aniridia type II was also diagnosed. Unlike previous reports, there was no family history of aniridia in these 2 cases. A correct diagnosis of aniridia is essential in such isolated cases for proper ophthalmic management and prognostication of vision and so that sequential monitoring for the development of Wilms' tumor is performed.
Traboulsi, E., Jaafar, M., Wilson, M., & Parks, M. (1990). Hypoplasia of the iris: The aniridia spectrum. International Pediatrics, 5 (3). Retrieved from https://hsrc.himmelfarb.gwu.edu/smhs_ophthalm_facpubs/211