First Author: P.Gouveia PORTUGAL
Co Author(s): S. Estrela-Silva E. Brandão F. Falcão-Reis 0 0 0 0 0 0 0 0 0
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To present a female case of Leber hereditary optic neuropathy (LHON). Family history revealed that the first affected female was a child.
Ophthalmology Department, Hospital S. João, Oporto, Portugal
A 36-year old woman was referred to our department due to decreased visual acuity on both eyes and a suspected bilateral papilledema. The best corrected visual acuity was 20/200 on both eyes. Pupillary reflexes were normal. On fundus examination the optic nerve appeared swollen inferiorly. The cerebral tomography was normal and the neurological examination excluded intracranial hypertension and inflammatory optic neuritis. The fluorescein angiography revealed tortuosity of peripapillary capillaries. No diffusion of contrast was observed. Optical coherence tomography of the retinal nerve fiber layer (RNFL) showed increased thickness of the RNFL of superior, temporal and inferior quadrants on both eyes. Further investigation revealed a family history of poor vision: 6 males and a female child over the course of 3 generations. The patient tested positive for 11778 mutation of MTND4 confirming the diagnosis of Leber hereditary optic neuropathy. On follow up visits the patient maintained a visual acuity of 20/200 bilaterally, pupillary reflexes were slow but present and optic atrophy manifested.
Leber hereditary optic neuropathy affects mostly males in their twenties and females have an approximate 10% lifetime risk of developing visual failure. There are 2 females affected is this family, one of them being a child. This case report intends to illustrate the natural evolution of LHON but also to underline the pattern of transmission (maternal, through mitochondrial DNA). Finally, LHON may manifest at any age in both genders. Therefore, a high clinical suspicion of the diagnosis is warranted.