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.