Outer retinal dysfunction in a patient with the 15257 mitochondrial DNA mutation
Gregory L Fenton1, Allen C Ho, Nicholas J Volpe
1From the *Retina Service, New England Eye Center, Tufts Medical Center, Boston, Massachusetts; †Retina Service, Wills Eye Institute; and ‡Department of Neuro-Ophthalmology, Scheie Eye Institute, University of Pennsylvania, Philadelphia, Pennsylvania.
Retinal Cases & Brief Reports
|November 13, 2014
Summary
The 15257 mitochondrial DNA mutation, linked to Leber hereditary optic neuropathy, may also cause outer retinal dysfunction. This case highlights potential vision loss beyond optic nerve damage.
Area of Science:
- Ophthalmology
- Genetics
- Neuroscience
Background:
- Leber hereditary optic neuropathy (LHON) is a maternally inherited mitochondrial disease.
- LHON is primarily characterized by acute or subacute optic nerve dysfunction.
- Outer retinal dysfunction has not been extensively documented in association with LHON.
Purpose of the Study:
- To present a case of outer retinal dysfunction.
- To investigate the association with the 15257 mitochondrial DNA mutation.
- To expand the understanding of LHON's clinical spectrum.
Main Methods:
- Case report of a 43-year-old woman with progressive visual loss.
- Ophthalmic examination including pupillary response and funduscopy.
- Optical coherence tomography (OCT) and multifocal electroretinography (mfERG).
- Genetic testing for mitochondrial DNA mutations associated with LHON.
Main Results:
- OCT revealed outer retinal thinning in both eyes.
- mfERG demonstrated severely reduced retinal function beyond the central macula.
- Genetic analysis confirmed the presence of the 15257 mitochondrial DNA mutation.
Conclusions:
- The 15257 mitochondrial DNA mutation may contribute to outer retinal dysfunction.
- This finding suggests a broader spectrum of visual impairment in LHON patients.
- Further research is warranted to elucidate the mechanisms of retinal involvement in LHON.
