Abstract
Purpose: We present a unique case of foveomacular vitelliform lesions in a patient with metabolic encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS). Observations: After performing large panel next generation sequencing genetic testing, there was no likely alternative genetic etiology for vitelliform maculopathy in this patient. Conclusions and Importance: We present a rare case of a visually asymptomatic pediatric patient with MELAS and vitelliform maculopathy, which may be part of the spectrum of retinal manifestations in MELAS. Pediatric-onset vitelliform maculopathy in MELAS may be under-diagnosed due to its asymptomatic nature. Given the known risk of choroidal neovascularization in vitelliform maculopathy, it is important to identify these patients for proper surveillance.
Original language | English (US) |
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Article number | 101842 |
Journal | American Journal of Ophthalmology Case Reports |
Volume | 30 |
DOIs | |
State | Published - Jun 2023 |
Keywords
- MELAS
- Macular dystrophy
- Maculopathy
- Vitelliform
ASJC Scopus subject areas
- Ophthalmology