Goldmann-Favre maculopathy

A healthy 17-year-old girl presented with typical symptoms and physical features of Goldmann-Favre vitreoretinal degeneration. She had reduced visual acuity in both eyes and night blindness. Her parents were first cousins. Striking fundus features included typical maculopathy with a radiating stellate pattern surrounded by tiny vacuole-like pockets of retinoschisis throughout the posterior pole within the temporal vascular arcades. The fundus features were quite typical and permitted a firm diagnosis when combined with the other features of night blindness, gender, and electroretinogram (ERG) abnormalities.