Retinal cases & brief reports · 2013
Subretinal deposits, paramacular atrophy and pigmentary retinopathy in mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes.
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Fung Adrian T, Engelbert Michael, Odel Jeffrey G, Yannuzzi Lawrence A
Аннотация
PURPOSE: 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.
CONCLUSION: 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.
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.
CONCLUSION: 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.