Best vitelliform macular dystrophy is a dominantly inherited, early onset, macular degenerative disease that exhibits some histopathologic similarities to age-related macular degeneration. Although the vitelliform lesion is common in the fundus of individuals with Best disease, diagnosis is based on a reduced ratio of the light peak to dark trough in the electrooculogram. Recently, the VMD2 gen...

PURPOSE Mutations in the hBest1 (VMD2) gene are linked to various kinds of macular degeneration, including Best vitelliform macular dystrophy (BVMD) and adult-onset vitelliform macular dystrophy (AVMD). The age at onset and severity of disease are quite variable. This study was conducted to examine Cl(-) currents generated by six hBest1 mutations (E119Q, A146K, T216I, DeltaI295, D312N, and L567...

Bests disease is an autosomal dominant hereditary macular dystrophy characterized by the presence of auto-fluorescent vitelline deposits. We report a case vitelliform stage bests in 23-year-old female patient. The diagnosis was made based on fundus appearance: egg yolk lesion, hypofluorescence early stages, OCT appearance and alteration electro-oculogram electroretinogram. exact frequency this ...

The right eye of a 9-year-old white boy with Best's vitelliform macular dystrophy had an intact egg-yolk lesion and a retinal pigment epithelial defect superiorly, suggesting an early pseudohypopyon stage. The disruptive phase of the left eye showed subretinal hemorrhages, a "signet ring," and a subretinal neovascular membrane.