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Bilateral progressive visual loss in an epileptic, mentally retarded boy

Author(s): Guerriero Silvana | Vetrugno Michele | Ciracì Lorenza | Artuso Lucia | Dell′Aglio Rosa | Petruzzella Vittoria

Journal: Middle East African Journal of Ophthalmology
ISSN 0974-9233

Volume: 18;
Issue: 1;
Start page: 67;
Date: 2011;
Original page

Keywords: Epilepsy | Leber′s Hereditary Optic Neuropathy | Migraine | Vision Loss

Leber′s hereditary optic neuropathy (LHON) is a maternally inherited, monosymptomatic disorder, characterized by severe central vision loss and optic atrophy that most frequently affects young men. The classic LHON phenotype is associated to three mitochondrial DNA mutations, mostly homoplasmic, in the Mt-ND4, Mt-ND6, and Mt-ND1 genes, encoding for complex I subunits of the mitochondrial respiratory chain. Rare cases have been described in the literature in association with variable central nervous system involvement in a syndromic form called LHON ′plus.′ In the present study, we report the case of a 16-year-old boy with the 3460/ND1 mutation who presented with epilepsy, migraine, and mental retardation as non-ophthalmic features. We also investigated his relatives who all had the 3460/ND1 mutation.
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