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Review
. 2004 Nov 4;122(6):276-9.
doi: 10.1590/s1516-31802004000600010. Epub 2005 Feb 2.

Leber's hereditary optic neuropathy--case report and literature review

Hélio Afonso Ghizoni Teive  1 , André Ribeiro Troiano, Salmo Raskin, Lineu César Werneck
Affiliations
Review

Leber's hereditary optic neuropathy--case report and literature review

Hélio Afonso Ghizoni Teive et al. Sao Paulo Med J. .

Abstract
in English, Portuguese

Context: Leber's hereditary optic neuropathy is an important cause of progressive painless visual loss among young male patients.

Objective: To report on a case of a young patient with a clinical and neurophysiological condition suggestive of Leber's hereditary optic neuropathy, confirmed by genetic testing.

Case report: We describe a 17-year-old male with progressive bilateral visual loss. Two maternal uncles had had similar patterns of visual loss. The patient had a history of smoking and alcohol abuse. Neuro-ophthalmological examination revealed visual acuity of 20/800 in both eyes, with decreased direct and consensual pupillary light reflexes. Fundus examination demonstrated pale optic discs. The visual evoked potential test showed signs of conduction disturbances in both optic nerves and campimetric study showed complete visual loss in all fields of both eyes. A diagnosis of bilateral optic neuropathy with a clinical suspicion of Leber's hereditary optic neuropathy was made. A blood sample was submitted to genetic analysis in relation to the principal mutations of this disorder, and homoplasmic mutation in 11778 was detected, thereby confirming the diagnosis of Leber's hereditary optic neuropathy.

CONTEXTO:: A neuropatia óptica hereditária de Leber representa uma importante causa de perda visual progressiva, sem dor, em pacientes jovens do sexo masculino.

OBJETIVO:: Relatar o caso de um paciente jovem com quadro clínico e neurofisiológico sugestivo de neuropatia óptica hereditária de Leber, confirmado pelo teste genético.

RELATO DE CASO:: Jovem do sexo masculino com 17 anos de idade com perda visual bilateral progressiva tinha história familiar de perda visual progressiva em dois tios maternos. O paciente tinha antecedentes de tabagismo e alcoolismo pesado. O exame neuro-oftalmológico demonstrou acuidade visual de 20/800 em ambos os olhos, com diminuição dos reflexos pupilares direto e consensual e palidez de papilas ópticas no exame de fundo de olho. O exame de potencial visual evocado definiu distúrbio de condução em ambos os nervos ópticos. O exame de campimetria visual revelou perda visual completa em todos os campos visuais de ambos os olhos. O paciente foi diagnosticado com neuropatia óptica bilateral, com a suspeita clínica de neuropatia óptica hereditária de Leber, e o estudo genético para a avaliação das principais mutações encontradas nesta doença revelou a presença da mutação homoplásmica 11778, confirmando, desta forma, o diagnóstico de neuropatia óptica hereditária de Leber.

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Conflict of interest statement

Conflict of interest: None

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