Genetic counseling in Leber hereditary optic neuropathy (LHON)

Acta Ophthalmologica Scandinavica
K HuoponenE Nikoskelainen

Abstract

To demonstrate the importance of mitochondrial DNA (mtDNA) analysis in the diagnosis of Leber hereditary optic neuropathy (LHON) and illustrate the difficulties in genetic counseling of the disease. Ophthalmological and molecular genetic study of one affected and three unaffected members from a family with heteroplasmic ND1/3460 mtDNA mutation associated with LHON. The proband had variable amounts of mutant mtDNA in all his tissues studied, ranging from 58% in blood to 92% in subcutis. The mother had an extremely low amount of mutant mtDNA in her tissues, except for hair roots, which contained only normal mtDNA. No mutant mtDNA could be detected in the proband's unaffected sister and maternal aunt. Despite her minimal mutation load, the mother of the proband has still transmitted a considerable amount of mutant mtDNA to her son, who is severely affected. Although proband's unaffected sister and maternal aunt had no mutant mtDNA, a theoretical risk that they may transmit the disease to their offspring cannot be excluded.

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Citations

Nov 1, 2002·Journal of the Neurological Sciences·Anu PuomilaKirsi Huoponen
Apr 5, 2007·European Journal of Human Genetics : EJHG·Anu PuomilaEeva Nikoskelainen
Jul 31, 2008·Human Reproduction·A L BredenoordG De Wert
May 18, 2010·Survey of Ophthalmology·J Alexander FraserNancy J Newman
Apr 22, 2016·Asia-Pacific Journal of Ophthalmology·Kuldeep MohantyTanuj Dada
Sep 5, 2012·Nature Reviews. Neurology·Nancy J Newman
Nov 24, 2015·Annual Review of Vision Science·Janey L Wiggs

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