[Hereditary occurrence of deep cavities in the optic nerve associated with Best's disease].
The authors present a pedigree where in three generations in male members deep excavations of the optic discs along with Best's disease of the centres in a variable form were recorded. The heredity is autosomal dominant. Retinal changes conditioned by defects of the pigmented epithelium reduce vision to a maximum of 6/60. The anomaly is associated with a pathological EOG record and normal ERG response. The observation is a contribution to discussions in the literature about the hereditary character of excavations of the optic nerve.
Svĕrák
J
J
Ocní klinika Fakultní nemocnice, Hradec Králové.
Rencová
E
E
Peregrin
J
J
D000328:Adult; D000368:Aged; D002648:Child; D005451:Fluorescein Angiography; D006801:Humans; D008268:Macular Degeneration / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D008297:Male; D009898:Optic Disk / Q000473:pathology*; D010375:Pedigree