Leber Hereditary Optic Neuropathy in an Octogenarian

Leber hereditary optic neuropathy (LHON) is a condition that typically affects young men in their second to fourth decades, causing acute or subacute painless loss of vision, often with a final visual acuity below 20/200 (1). However, people outside the typical age range of 15-35 years may still present with classic symptoms and test positively for a known LHON mutation (2). We recently examined an 81-year-old man who developed progressive bilateral vision loss due to LHON. A generally healthy 81-year-old white man with no family history of eye disease presented elsewhere in January 2006 with a 2-month history of painless progressive bilateral visual loss more in the left eye than in the right eye. His past medical history was significant for mild hypertension and coronary artery disease. He denied a history of diabetes mellitus, stroke, myocardial infarction, tobacco use, or alcohol consumption. Visual acuity was 20/70 in the right eye and counting fingers in the left eye. Ishihara color testing showed that he could only identify 7/15 plates with the right eye and none with the left eye. The pupillary examination was normal. Intraocular pressures were 17 mm Hg in the right eye and 18 mm Hg in the left eye. Mild nuclear sclerotic lens changes were noted in both eyes. Ophthalmoscopy through dilated pupils revealed a mild epiretinal membrane in the right eye and mild macular drusen in both eyes. Both optic discs demonstrated mild temporal pallor. Goldmann visual fields demonstrated bilateral central scotomas (Fig. 1). Results of MRI of the brain, orbits, chest, and abdomen, full-body positron emission tomography (PET) scanning, fluorescein angiography, full-field and focal electroretinography (ERG), and laboratory tests for autoimmune disease, infectious processes, and paraneoplastic syndromes were negative. A lumbar puncture revealed an opening pressure of 180 mmH2O, colorless fluid with no cells, and 82 mg/dL of protein (normal: 15-45 mg/dL).FIG. 1: Goldmann visual fields show bilateral central scotomas.On evaluation at The Massachusetts Eye and Ear Infirmary 6 months later, visual acuity was counting fingers at 1 foot in both eyes. A left afferent pupillary defect was present. Both optic discs showed diffuse pallor. All other aspects of his examination were normal. Genetic testing for LHON showed the patient to be positive for the 11778 mutation. The oldest reported patient with LHON was a 73-year-old man who also harbored the 11778 mutation (3). Although clinicians typically expect patients with vision loss from LHON to present relatively early in life, patients such as ours serve as an important reminder that LHON should be considered as a possible diagnosis in older adults who develop atypical bilateral optic neuropathies. Our case is atypical in that our patient initially developed bilateral and asymmetric vision loss at the age of 81. As our ability to confirm diagnoses by mutational analysis expands, so does our understanding of the clinical spectrum of this disease. Lora R. Dagi, BA Mount Sinai School of Medicine, New York, New York Joseph F. Rizzo III, MD Dean M. Cestari, MD Massachusetts Eye and Ear Infirmary, Boston, Massachusetts, [email protected]