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Leber's Hereditary Optic Neuropathy Masquerading as Retinal Vasculitis
Arch Ophthalmol. 2000;118:1587-1589.
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Leber's hereditary optic neuropathy (LHON) is a maternally inherited mitochondrial disease caused by several specific point mutations in mitochondrial DNA. The mutation at nucleotide position 11778 was the first point mutation to be identified and is the most common point mutation associated with LHON. For decades the diagnosis of LHON was dependent on the presence of classic ophthalmoscopic findings of circumpapillary telangiectatic microangiopathy, swelling of the nerve fiber layer around the disc (pseudopapilledema), and the absence of leakage from the disc on fluorescein angiography. Genetic analysis allows characterization of the clinical spectrum of LHON through the identification of cases that in the past would have remained undiagnosed. We report a new finding of peripheral retinal phlebitis associated with the 11778 mutation in LHON.
Report of a Case
A 17-year-old African American woman with highmyopia was examined for a 5-month history of gradually declining vision in both eyes. There was no history of multiple sclerosis . . . [Full Text of this Article]
Comment
Corresponding author: Eric S. Mann, MD, PhD, Saint Louis University Eye Institute, 1755 S Grand Blvd, St Louis, MO 63104 (e-mail: manne4@slu.edu).
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