Outer retinal dysfunction in a patient with the 15257 mitochondrial DNA mutation.

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.