Diagnostic features of the Favre-Goldmann syndrome.
Extensive retinal vascular disease was noted in three patients from two families with Favre-Goldmann syndrome. In addition to classical features they had pronounced leakage from some retinal vessels. Vessels were either opaque ('sclerotic') or non-perfused. Cystoid macular oedema was a contributing cause of decreased vision. Two of the three patients showed a discrepancy on electroretinography between single-flash photopic amplitudes and flicker fusion frequency. This may be characteristic of Favre-Goldmann syndrome.
D000328:Adult; D004596:Electroretinography; D005260:Female; D005451:Fluorescein Angiography; D005654:Fundus Oculi / Q000473:pathology; D006801:Humans; D008266:Macula Lutea / Q000473:pathology; D008297:Male; D008875:Middle Aged; D009755:Night Blindness / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D010375:Pedigree; D010786:Photoreceptor Cells / Q000473:pathology; D012162:Retinal Degeneration / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D013577:Syndrome; D014822:Vitreous Body / Q000473:pathology*