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Multifocal vitelliform lesions associated with mitochondrial retinopathy
Maurizio Battaglia Parodi1,2, Alessio Antropoli1,2, Lorenzo Bianco1,2
1Ophthalmology Department, IRCCS San Raffaele Scientific Institute, Milan, Italy.
American Journal of Ophthalmology Case Reports
|October 16, 2024
Summary
Metabolic encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) can manifest with multifocal vitelliform lesions. This mitochondrial retinopathy, linked to the m.3243A>G variant, presents unique fundus findings.
Area of Science:
- Ophthalmology
- Genetics
- Neurology
Background:
- Metabolic encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) is a mitochondrial disorder.
- The m.3243A>G variant is a common genetic cause of MELAS.
- Ocular manifestations in MELAS are increasingly recognized.
