Presumed vitelliform dystrophy with perimacular flecks and retinal detachment.
Seven of eight siblings of asymptomatic non-consanguineous parents were investigated. Two of them had atrophic cystoid macular degeneration and flat or subnormal electro-oculograms suggesting the diagnosis of vitelliform dystrophy. In one eye the central cystoid lesion was surrounded by atypical small whitish hyperfluorescent flecks resembling fundus flavimaculatus. In the other eye of this patient cystoid macular degeneration progressed to shallow non-rhegmatogenous detachment of the retina. One of the asymptopmatic siblings had a mild colour vision defect of tritan-type and some fleckish hyperfluorescence around the macula and another sister showed abnormal EOG responses. These patients are probably carriers of the pathological gene responsible for the disease.
D000328:Adult; D003117:Color Vision Defects / Q000150:complications; D004585:Electrooculography; D005260:Female; D005451:Fluorescein Angiography; D005799:Genes, Dominant; D006801:Humans; D008266:Macula Lutea / Q000473:pathology*; D008268:Macular Degeneration / Q000150:complications / Q000235:genetics / Q000473:pathology*; D008297:Male; D012163:Retinal Detachment / Q000150:complications*