Histopathology of Goldmann-Favre syndrome obtained by full-thickness eye-wall biopsy.
The first histopathologic specimen form the eye of a patient with Goldmann-Favre syndrome was obtained by full-thickness eye-wall biopsy. Diagnosis was established by an early history of night blindness, characteristic clinical features including atypical pigmentary retinopathy, peripheral retinoschisis, opaque "sclerotic-appearing" peripheral retinal vessels, vitreous changes including liquefaction and condensed vitreous bands and a non-detectable electroretinogram (ERG). Histopathologic changes from a 4 mm peripheral area included diffuse degenerative changes involving predominantly the sensory retinal layers with a relatively normal pigment epithelium and choroid. Vascular changes included thickened retinal vessel basement membranes and areas of vascular occlusion. These findings are compatible with a primary photoreceptor involvement in addition to a vascular component. A thick preretinal membrane of glial tissue was an additional finding.
D000328:Adult; D001706:Biopsy / Q000379:methods; D002829:Choroid / Q000473:pathology; D005128:Eye Diseases / Q000175:diagnosis / Q000473:pathology; D005260:Female; D006801:Humans; D009755:Night Blindness / Q000175:diagnosis / Q000473:pathology*; D010786:Photoreceptor Cells / Q000648:ultrastructure; D010857:Pigment Epithelium of Eye / Q000648:ultrastructure; D012160:Retina / Q000473:pathology; D012162:Retinal Degeneration / Q000175:diagnosis / Q000473:pathology*; D012171:Retinal Vessels / Q000648:ultrastructure; D012590:Sclera / Q000473:pathology; D013577:Syndrome; D014822:Vitreous Body / Q000473:pathology*