[Skip to Navigation]
June 1994

Flecked Retina Associated With Café au Lait Spots, Microcephaly, Epilepsy, Short Stature, and Ring 17 Chromosome

Author Affiliations

Miami, Fla; Fort Lauderdale, Fla

Arch Ophthalmol. 1994;112(6):738-739. doi:10.1001/archopht.1994.01090180036013

Characteristic patterns of spots or flecks may occur in the ocular fundi of patients with heritable ocular and systemic diseases, including agerelated macular degeneration, pattern dystrophies, Stargardt's disease, fundus flavimaculatus, Bietti's crystalline tapetoretinal dystrophy, fundus albipunctatus, Alport's disease, primary hyperoxaluria, Sjögren-Larsson syndrome, and Gaucher's disease. We report herein a case of a striking pattern of retinal flecks in a patient with other congenital anomalies associated with ring 17 chromosome.

Report of a Case.  A 34-year-old man with multiple café au lait spots, seizures, a behavior disorder, microcephaly, short stature, and a ring 17 chromosome genotype had no ocular complaints. Visual acuity was 20/30 OU. There were a few cortical flecks in both lenses. The corneas and irides were normal and the vitreous was clear. Small, yellow-white flecks of variable size involving the level of the retinal pigment epithelium were scattered throughout the postequatorial fundi (Figure 1). There was a solitary,

Add or change institution