Outer retinal dysfunction in a patient with the 15257 mitochondrial dna mutation

Gregory L. Fenton*, Allen C. Ho, Nicholas J. Volpe

*Corresponding author for this work

Research output: Contribution to journalReview article

1 Scopus citations

Abstract

Purpose: The purpose of this study was to report a case of outer retinal dysfunction in a patient harboring the 15257 mitochondrial DNA mutation associated with Leber hereditary optic neuropathy. Methods: A 43-year-old woman presented with a 6-month history of painless progressive visual loss in the right eye. She was found to have a right afferent pupillary defect, mild optic disk pallor, normal retinal vasculature, and mild retinal pigment epithelial changes in the macula of both eyes. She underwent optical coherence tomography of the macula of both eyes, multifocal electroretinography, and genetic testing for Leber hereditary optic neuropathy. Results: Optical coherence tomography showed thinning of the outer retina, and multifocal electroretinography showed isoelectric waveforms centrally with markedly depressed amplitudes beyond the central five rings in both eyes. Genetic testing showed that the patient harbored the 15257 mitochondrial DNA mutation associated with Leber hereditary optic neuropathy. Conclusion: The 15257 mitochondrial DNA mutation may be associated with outer retinal dysfunction in addition to Leber hereditary optic neuropathy.

Original languageEnglish (US)
Pages (from-to)104-107
Number of pages4
JournalRetinal Cases and Brief Reports
Volume5
Issue number2
DOIs
StatePublished - Dec 1 2011

    Fingerprint

Keywords

  • Leber hereditary optic neuropathy
  • Mitochondrial DNA mutations
  • Stargardt disease

ASJC Scopus subject areas

  • Ophthalmology

Cite this