title: Macular dystrophy associated with the mitochondrial DNA A3243G mutation: pericentral pigment deposits or atrophy? Report of two cases and review of the literature.
abstract: BACKGROUND
  The A3243G point mutation in mitochondrial DNA (mtDNA) is associated with MELAS (mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes) and MIDD syndromes (maternally inherited diabetes and deafness). Both MELAS and MIDD patients can present with visual symptoms due to a retinopathy, sometimes before the genetic diagnosis is made.
  
  
  METHODS
  Patient 1: 46 year-old woman with diabetes mellitus and hearing loss was referred for an unspecified maculopathy detected during screening evaluation for diabetic retinopathy. Visual acuity was 20/20 in both eyes. Fundus examination showed bilateral macular and peripapillary hyperpigmented/depigmented areas.Patient 2: 45 year-old woman was referred for recent vision loss in her left eye. History was remarkable for chronic fatigue, migraine and diffuse muscular pain. Visual acuity was 20/20 in her right eye and 20/30 in her left eye. Fundus exhibited several nummular perifoveal islands of retinal pigment epithelium atrophy and adjacent pale deposits in both eyes.Retinal anatomy was investigated with autofluorescence, retinal angiography and optical coherence tomography. Retinal function was assessed with automated static perimetry, full-field and multifocal electroretinography and electro-oculography. Genetic testing of mtDNA identified a point mutation at the locus 3243.
  
  
  CONCLUSIONS
  Observation of RPE abnormalities in the context of suggestive systemic findings should prompt mtDNA testing.
authors.affiliation: Department of ophthalmology, Jules Gonin Eye Hospital, Fondation Asile des aveugles, University of Lausanne, Avenue de France 15, Case postale 133, CH-1000 Lausane7, Switzerland. adaruich.matet@gmail.com.
authors.forename: Alejandra
authors.initials: A
authors.lastname: Daruich
authors.forename: Alexandre
authors.initials: A
authors.lastname: Matet
authors.forename: François-Xavier
authors.initials: FX
authors.lastname: Borruat
mesh_terms: D004272:DNA, Mitochondrial / Q000235:genetics*; D004596:Electroretinography; D005260:Female; D005451:Fluorescein Angiography; D005654:Fundus Oculi; D006801:Humans; D008268:Macular Degeneration / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology; D008875:Middle Aged; D017354:Point Mutation; D055213:Retinal Pigment Epithelium / Q000473:pathology*; D041623:Tomography, Optical Coherence; D014792:Visual Acuity
chemical_list: D004272:DNA, Mitochondrial