Subretinal deposits, paramacular atrophy and pigmentary retinopathy in mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes.
OBJECTIVE
To report a case of subretinal deposits, paramacular atrophy, and pigmentary retinopathy associated with mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes.


METHODS
Retrospective review of medical records.


RESULTS
A 45-year-old white woman presented with progressive deterioration of vision and dark adaptation over several years. She had a background of an undiagnosed neurodegenerative disorder, including sensorineural hearing loss, cognitive disturbance, and peripheral neuropathy. On examination, subretinal deposits were visible along the superotemporal arcades. A diagnosis of mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes was confirmed by genetic testing (A3243G gene mutation). Four years later, she had developed paramacular atrophy and pigmentary retinopathy.


CONCLUSIONS
Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes may be associated with paramacular atrophy and pigmentary retinopathy. Autofluorescent changes may precede these signs and can help distinguish this condition from Stargardt disease-fundus flavimaculatus. As far as we are aware, this is the first report of fundus autofluorescence imaging and optical coherence tomography in mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes-associated retinopathy. Subretinal deposit may be an early sign.
*Vitreous-Retina-Macula Consultants of New York, New York, New York †LuEsther T. Mertz Retinal Research Center, Manhattan Eye, Ear, and Throat Institute, New York, New York ‡New York University Langone Medical Center, New York, New York §New York-Presbyterian Hospital, Columbia University Medical Center, New York, New York ¶Edward S. Harkness Eye Institute, Columbia University College of Physicians and Surgeons, New York, New York.
Adrian T
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Fung
Michael
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Engelbert
Jeffrey G
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Odel
Lawrence A
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Yannuzzi