Enhanced accumulation of A2E in individuals homozygous or heterozygous for mutations in BEST1 (VMD2)
B Bakall, RA Radu, JB Stanton, JM Burke… - Experimental eye …, 2007 - Elsevier
Best vitelliform macular dystrophy (BMD) is an autosomal dominant inherited macular
degenerative disease caused by mutations in the gene BEST1 (formerly VMD2). Prior
reports indicate that BMD is characterized histopathologically by accumulation of lipofuscin
in the retinal pigment epithelium (RPE). However, this accumulation has not been quantified
and the chemical composition of lipofuscin in BMD has not been examined. In this study we
characterize the histopathology of a donor eye from a rare individual homozygous for a …
degenerative disease caused by mutations in the gene BEST1 (formerly VMD2). Prior
reports indicate that BMD is characterized histopathologically by accumulation of lipofuscin
in the retinal pigment epithelium (RPE). However, this accumulation has not been quantified
and the chemical composition of lipofuscin in BMD has not been examined. In this study we
characterize the histopathology of a donor eye from a rare individual homozygous for a …