Intrafamilial Variability of IMPG1-Associated Vitelliform Dystrophy

Segregation of a novel deletion in exon 7 of IMPG1 in a family with a vitelliform macular dystrophy, together with a previously reported similar phenotype in patients with heterozygous nucleotide changes within this region of the gene supports the pathogenicity of this variant. Intrafamilial variability in the topography of the lesions with multifocality in one of the siblings suggests retina-wide abnormalities with individual modifiers modulating disease expression.