Two sisters with macular dystrophy caused by the 3243A>G mitochondrial DNA mutation ☆ ☆☆

Abstract Case report Two sisters, 54 and 60 years old, with a history of diabetes and deafness, consulted for decreased visual acuity (VA). Funduscopic examination revealed patchy areas of chorioretinal atrophy with annular arrangement around the fovea. Genetic study identified the heteroplasmic mutation 3243A>G in mitochondrial DNA, which supports the syndrome maternally inherited diabetes and deafness (MIDD) or Ballinger-Wallace disease. Discussion The finding of such macular disorders, especially in the presence of diabetes mellitus and deafness, should suggest the performing of a mitochondrial genome screening to identify this unusual syndrome.