Dystrophia retinae pigmentosa, fundus flavimaculatus and Stargardt's disease in one family.
This paper describes a family, the propositus of which suffers from dystrophia retinae pigmentosa combined with fundus flavimaculatus and Stargardt's disease. The patient's mother and a maternal uncle suffer from a dystrophia retinae pigmentosa, whereas a sister shows peripheral degenerations. A further sister has a scotopic b wave of the ERG of low amplitude.
D000293:Adolescent; D000328:Adult; D000368:Aged; D002648:Child; D005451:Fluorescein Angiography; D005654:Fundus Oculi; D006801:Humans; D008268:Macular Degeneration / Q000150:complications / Q000175:diagnosis / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D012174:Retinitis Pigmentosa / Q000150:complications / Q000175:diagnosis / Q000235:genetics*