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Author Spotlight: Ex Vivo OCT-Based Multimodal Imaging of Human Donor Eyes for Research into Age-Related Macular Degeneration
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Vitelliform maculopathy in MELAS syndrome.

Cody Jahrig1, Cristy A Ku2, Molly Marra3

  • 1Department of Medicine, Nassau University Medical Center, East Meadow, NY, United States.

American Journal of Ophthalmology Case Reports
|April 25, 2023
PubMed
Summary

This study reports a rare case of foveomacular vitelliform lesions in a pediatric patient with MELAS (mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes). Early identification of this retinal manifestation in MELAS is crucial for monitoring potential complications.

Area of Science:

  • Ophthalmology
  • Genetics
  • Neurology

Background:

  • Metabolic encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) is a mitochondrial disorder.
Keywords:
MELASMacular dystrophyMaculopathyVitelliform

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  • Retinal manifestations are recognized in MELAS, but foveomacular vitelliform lesions are rare.
  • Pediatric-onset vitelliform maculopathy can be asymptomatic, leading to potential underdiagnosis.