Middle East African Journal of Ophthalmology

CASE REPORT
Year
: 2011  |  Volume : 18  |  Issue : 1  |  Page : 67--70

Bilateral progressive visual loss in an epileptic, mentally retarded boy


Silvana Guerriero1, Michele Vetrugno1, Lorenza Ciracì1, Lucia Artuso2, Rosa Dell'Aglio2, Vittoria Petruzzella3 
1 Department of Ophthalmology-Otolaringology, University of Bari, Bari, Italy
2 Department of Medical Biochemistry, Biology and Physics, University of Bari, Bari, Italy
3 Department of Medical Biochemistry, Biology and Physics, University of Bari, Bari; CNR Institute of Biomembrane and Bioenergetic (IBBE), Bari, Italy

Correspondence Address:
Silvana Guerriero
Department of Ophthalmology-Otolaringology, University of Bari
Italy

Leber«SQ»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 «SQ»plus.«SQ» 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.


How to cite this article:
Guerriero S, Vetrugno M, Ciracì L, Artuso L, Dell'Aglio R, Petruzzella V. Bilateral progressive visual loss in an epileptic, mentally retarded boy.Middle East Afr J Ophthalmol 2011;18:67-70


How to cite this URL:
Guerriero S, Vetrugno M, Ciracì L, Artuso L, Dell'Aglio R, Petruzzella V. Bilateral progressive visual loss in an epileptic, mentally retarded boy. Middle East Afr J Ophthalmol [serial online] 2011 [cited 2021 Dec 1 ];18:67-70
Available from: http://www.meajo.org/article.asp?issn=0974-9233;year=2011;volume=18;issue=1;spage=67;epage=70;aulast=Guerriero;type=0