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.
Nasr
Y G
YG
El-Maghraby Specialist Hospital, Jeddah, Saudi Arabia.
Cherfan
G M
GM
Michels
R G
RG
Wilkinson
C P
CP
D000293:Adolescent; D005128:Eye Diseases / Q000235:genetics / Q000473:pathology; D005260:Female; D005451:Fluorescein Angiography; D005654:Fundus Oculi; D006801:Humans; D008266:Macula Lutea; D012162:Retinal Degeneration / Q000235:genetics* / Q000473:pathology; D014792:Visual Acuity; D014822:Vitreous Body