Background: Ring 14 chromosome has been reported to be associated with mental retardation, craniofacial dysmorphology, and epilepsy. Flecked and/or pigmented retina are also ocular manifestations of this disease.
Case: A 29-year-old female suffered from seizures and developmental and growth delay. Narrow palpebral fissura, broad flat nose, large auricula, high arched palate, and short neck were present. Chromosomal analysis disclosed her ring 14 chromosome (p 11.2 q 32.3). Ophthalmologically, cortical cataract, refractive error (right--3.00 D, left--1.50 D), and yellow-white flecks in the macula and yellow-white spots in the mid-peripheral retina in both eyes were present.
Conclusions: To date, ophthalmic changes concomitant to a breakpoint at 14 q 32.2 have been reported. We report a case of ring 14 chromosome with breakpoint at 14 q 32.3 which showed yellow flecks in the macula and mid-peripheral retina.