Subretinal deposits, paramacular atrophy and pigmentary retinopathy in mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes

Adrian T. Fung*, Michael Engelbert, Jeffrey G. Odel, Lawrence A. Yannuzzi

*Corresponding author for this work

Research output: Contribution to journalArticle

1 Citation (Scopus)

Abstract

Purpose: To report a case of subretinal deposits, paramacular atrophy, and pigmentary retinopathy associated with mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes. Methods: Retrospective review of medical records. Results: A 45-year-old white woman presented with progressive deterioration of vision and dark adaptation over several years. She had a background of an undiagnosed neurodegenerative disorder, including sensorineural hearing loss, cognitive disturbance, and peripheral neuropathy. On examination, subretinal deposits were visible along the superotemporal arcades. A diagnosis of mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes was confirmed by genetic testing (A3243G gene mutation). Four years later, she had developed paramacular atrophy and pigmentary retinopathy. Conclusion: Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes may be associated with paramacular atrophy and pigmentary retinopathy. Autofluorescent changes may precede these signs and can help distinguish this condition from Stargardt disease-fundus flavimaculatus. As far as we are aware, this is the first report of fundus autofluorescence imaging and optical coherence tomography in mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes-associated retinopathy. Subretinal deposit may be an early sign.

Original languageEnglish
Pages (from-to)14-18
Number of pages5
JournalRetinal Cases and Brief Reports
Volume7
Issue number1
DOIs
Publication statusPublished - Dec 2013
Externally publishedYes

Keywords

  • MELAS
  • Pigmentary retinopathy
  • Retinal pigment epithelial atrophy

Fingerprint Dive into the research topics of 'Subretinal deposits, paramacular atrophy and pigmentary retinopathy in mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes'. Together they form a unique fingerprint.

Cite this