Iris Hypoplasia as the Presenting Sign of Retinoblastoma in a Child With a 13q Deletion

After the first 13q deletion syndrome case was described in 1963, approximately 180 cases associated with partial or complete deletion of the long arm (q) of chromosome 13 have been reported in medical literature. The various clinical features of this rare syndrome have been established and include moderate to severe mental retardation, growth delay, facial dysmorphic features, limb defects, digestive anomalies, deafness, and various other malformations of the brain, kidney, heart, or eye. Retinoblastoma is the most concerning ocular finding associated with the 13q deletion syndrome.1 The

Source: Journal of Pediatric Ophthalmology and Strabismus - April 24, 2018 Category: Opthalmology Authors: Sona Shah, BA Source Type: research