title: Two sisters with macular dystrophy caused by the 3243A>G mitochondrial DNA mutation.
abstract: METHODS
  Two sisters of 54 and 60years 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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: Departamento de Oftalmología, Hospital Universitario Ramón y Cajal, Madrid, España. Electronic address: verosangu@gmail.com.
authors.forename: V
authors.initials: V
authors.lastname: Sánchez-Gutiérrez
authors.affiliation: Departamento de Oftalmología, Hospital Universitario Ramón y Cajal, Madrid, España.
authors.forename: J
authors.initials: J
authors.lastname: García-Montesinos
authors.affiliation: Departamento de Oftalmología, Hospital Universitario Ramón y Cajal, Madrid, España.
authors.forename: A
authors.initials: A
authors.lastname: Pardo-Muñoz
mesh_terms: D004272:DNA, Mitochondrial / Q000235:genetics*; D005260:Female; D006801:Humans; D008268:Macular Degeneration / Q000175:diagnosis / Q000235:genetics*; D008875:Middle Aged; D009154:Mutation
chemical_list: D004272:DNA, Mitochondrial
keywords: ADN mitocondrial; Ballinger-Wallace syndrome; Deafness; Diabetes; Distrofia macular; Enfermedad mitocondrial; Macular dystrophy; Mitochondrial DNA; Mitochondrial disease; Sordera; Síndrome de Ballinger-Wallace