Multifocal vitelliform lesions associated with mitochondrial retinopathy

Abstract

Purpose: To report a case of multifocal vitelliform lesions in a patient affected by metabolic encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS) with the m.3243A>G variant. Observations: A 37-year-old woman affected by MELAS was referred to our center for progressive vision deterioration. On fundus examination, she presented bilateral macular atrophy associated in the left eye with neurosensory detachment, along with several bilateral vitelliform lesions close to the vascular arcades. We describe the dynamic evolution of the vitelliform lesions, which could either enlarge and coalesce or undergo atrophic evolution. Conclusions: Mitochondrial retinopathy due to the m.3243A>G variant can be associated with multifocal vitelliform lesions.

Keywords

• Mitochondrial retinopathy
• OCT
• Autofluorescence imaging