Dos hermanas con distrofia macular causada por la mutación 3243A>G del ADN mitocondrial

espanolCaso clinico Dos hermanas de 54 y 60 anos, con antecedentes de diabetes y sordera, consultaron por disminucion de la agudeza visual (AV). En la funduscopia se observaban areas parcheadas de atrofia coriorretiniana con disposicion anular alrededor de la fovea. El estudio genetico identifico la mutacion heteroplasmica 3243A>G en el ADN mitocondrial, compatible con el sindrome Maternally Inherited Diabetes and Deafness (MIDD) o enfermedad de Ballinger-Wallace. Discusion El hallazgo de tales alteraciones maculares caracteristicas, especialmente si se acompana de diabetes mellitus y sordera, nos debe indicar la realizacion de un cribado del genoma mitocondrial para identificar este inusual sindrome EnglishCase report Two sisters of 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 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.