Case ReportMACULAR PIGMENT RINGS AS THE PRESENTING FINDING OF MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKELIKE EPISODESInoue, Maiko MD*,†; Kiss, Szilárd MD‡; Freund, K. Bailey MD*,†,§Author Information *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. Reprint requests: K. Bailey Freund, MD, Vitreous-Retina-Macula Consultants of New York, 460 Park Avenue, 5th Floor, New York, NY 10022; e-mail: firstname.lastname@example.org Supported by the LuEsther T. Mertz Retinal Research Center, Manhattan Eye, Ear and Throat Hospital, New York, NY, and the Macular Foundation, Inc, New York, NY. Paper presented at Pacific Retina Club, Los Angeles, California, March 27, 2015. K. B. Freund is a consultant to Optovue, Genentech, ThromboGenics, Ohr Pharmaceutical, and Heidelberg Engineering (honorarium for each). S. Kiss has financial disclosures from Allergan, Alimera, Avalanche, Bausch + Lomb, Genentech/Roche, Regeneron, Optos. He is supported in part by a Physician Scientist Award from the Research to Prevent Blindness. M. Inoue has no financial/conflicting interests to disclose. Retinal Cases and Brief Reports: Fall 2015 - Volume 9 - Issue 4 - p 260-264 doi: 10.1097/ICB.0000000000000182 Buy Metrics AbstractIn Brief Purpose: 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. Conclusion: 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. The authors describe a patient in whom the detection of asymptomatic pigmentary retinopathy led to a diagnosis of mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes. The mitochondrial DNA A3243G point mutation was confirmed with genetic testing. Multimodal imaging seems to be useful in diagnosing retinopathy associated with the mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes syndrome. © 2015 by Ophthalmic Communications Society, Inc.