title: MACULAR PIGMENT RINGS AS THE PRESENTING FINDING OF MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKELIKE EPISODES.
abstract: OBJECTIVE
  To show the multimodal imaging findings observed in a patient in whom the recognition of characteristic pigmentary retinopathy led to the diagnosis of mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes.
  
  
  METHODS
  Retrospective case report. A 47-year-old woman was referred for evaluation of macular changes detected on a routine ophthalmologic examination.
  
  
  RESULTS
  Funduscopic examination showed bilateral findings of the focal areas of pigment hyperplasia in the paramacular region, forming a ringlike pattern in both eyes. Multimodal imaging was performed to further characterize the fundus changes. A review of systems revealed hearing difficulties and neurologic symptoms that further raised a suspicion for retinopathy associated with mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes syndrome. Genetic testing showing the mitochondrial DNA A3243G point mutation confirmed the diagnosis.
  
  
  CONCLUSIONS
  Multimodal imaging is a useful technique in diagnosing retinopathy associated with the mitochondrial DNA A3243G point mutation. Characteristic pigmentary retinopathy with suggestive systemic findings should prompt genetic testing for this mutation.
authors.affiliation: *Vitreous-Retina-Macula Consultants of New York, New York, New York; †The LuEsther T. Mertz Retinal Research Center, Manhattan Eye, Ear and Throat Hospital, New York, New York; ‡Department of Ophthalmology, Weill Cornell Medical College, New York, New York; and §Department of Ophthalmology, New York University School of Medicine, New York, New York.
authors.forename: Maiko
authors.initials: M
authors.lastname: Inoue
authors.forename: Szilárd
authors.initials: S
authors.lastname: Kiss
authors.forename: K Bailey
authors.initials: KB
authors.lastname: Freund
mesh_terms: D000140:Acidosis, Lactic / Q000150:complications / Q000175:diagnosis*; D001927:Brain Diseases / Q000150:complications / Q000175:diagnosis*; D005260:Female; D006801:Humans; D065348:Macular Pigment / Q000032:analysis*; D008875:Middle Aged; D017240:Mitochondrial Myopathies / Q000150:complications / Q000175:diagnosis*; D064847:Multimodal Imaging; D012164:Retinal Diseases / Q000175:diagnosis* / Q000209:etiology; D012189:Retrospective Studies; D020521:Stroke / Q000150:complications / Q000175:diagnosis*
chemical_list: D065348:Macular Pigment