Stargardts macular dystrophy is a genetic disorder with an estimated incidence of 1 in 10,000. It is almost always inherited as an autosomal recessive disorder, with only 10% cases resulting from dominant mode of inheritance. Mutations in Stargardts disease gene ABCA4 can result in different macular dystrophies like fundus flavimaculatus, cone rod dystrophy and autosomal recessive retinitis pigmentosa.[1] Variable presentations of different macular dystrophies in the members of same family are reported, but two distinct dystrophies affecting cornea and retina among siblings have rarely been reported.

Stargardts macular dystrophy is a genetic disorder with an estimated incidence of 1 in 10,000. It is almost always inherited as an autosomal recessive disorder, with only 10% cases resulting from dominant mode of inheritance. Mutations in Stargardts disease gene ABCA4 can result in different mac...