Presumed vitelliform dystrophy with perimacular flecks and retinal detachment

Abstract

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.

Clinical and Genetic Heterogeneity in Multifocal Vitelliform Dystrophy

“…ULTIFOCAL VITELLIform lesions have been described in several articles. [1][2][3][4][5][6][7][8][9][10][11][12][13][14][15][16] Lesions typically are manifested as sharply demarcated yellowish cysts in the macula, near the retinal vascular arcades and surrounding the optic disc. A variation in size and number (as many as 20) can be observed.…”