Leber hereditary optic neuropathy due to a new ND1 mutation

Patrick Soldath; Marianne Wegener; Birgit Sander; Thomas Rosenberg; Morten Duno; Flemming Wibrand; John Vissing

doi:10.1080/13816810.2016.1253108

Leber hereditary optic neuropathy due to a new ND1 mutation

Patrick Soldath, Marianne Wegener, Birgit Sander, Thomas Rosenberg, Morten Duno, Flemming Wibrand, John Vissing^*

^*Corresponding author for this work

Department of Clinical Medicine

3 Citations (Scopus)

Abstract

We report a proband with Leber hereditary optic neuropathy (LHON), in whom we have identified a novel homoplasmic m.3,395A>G mutation in the ND1 gene. The mutation alters a highly conserved amino acid in codon 30 which previously has been associated with LHON and leads to a severe selective complex I deficiency. By providing further evidence for pathogenicity we conclude that m.3,395A>G is pathogenic. High definition optical coherence tomography of the retina and peripapillary retinal nerve fiber layer (pRNFL) confirms recent reports that retinal ganglion cell loss precedes axonal loss in LHON and is present in the early stage of the disease. Furthermore, evaluation of two unaffected mutation carriers disclosed asymptomatic borderline ganglion cell loss and thin pRNFL in one.

Original language	English
Journal	Ophthalmic Genetics
Volume	38
Issue number	5
Pages (from-to)	480-485
Number of pages	6
ISSN	1381-6810
DOIs	https://doi.org/10.1080/13816810.2016.1253108
Publication status	Published - 2017

Keywords

Complex I deficiency
leber hereditary optic neuropathy
LHON
mitochondrial DNA
ND1 gene
optical coherence tomography
retinal ganglion cell
retinal nerve fiber layer

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10.1080/13816810.2016.1253108

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title = "Leber hereditary optic neuropathy due to a new ND1 mutation",

abstract = "We report a proband with Leber hereditary optic neuropathy (LHON), in whom we have identified a novel homoplasmic m.3,395A>G mutation in the ND1 gene. The mutation alters a highly conserved amino acid in codon 30 which previously has been associated with LHON and leads to a severe selective complex I deficiency. By providing further evidence for pathogenicity we conclude that m.3,395A>G is pathogenic. High definition optical coherence tomography of the retina and peripapillary retinal nerve fiber layer (pRNFL) confirms recent reports that retinal ganglion cell loss precedes axonal loss in LHON and is present in the early stage of the disease. Furthermore, evaluation of two unaffected mutation carriers disclosed asymptomatic borderline ganglion cell loss and thin pRNFL in one.",

keywords = "Complex I deficiency, leber hereditary optic neuropathy, LHON, mitochondrial DNA, ND1 gene, optical coherence tomography, retinal ganglion cell, retinal nerve fiber layer",

author = "Patrick Soldath and Marianne Wegener and Birgit Sander and Thomas Rosenberg and Morten Duno and Flemming Wibrand and John Vissing",

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language = "English",

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T1 - Leber hereditary optic neuropathy due to a new ND1 mutation

AU - Soldath, Patrick

AU - Wegener, Marianne

AU - Sander, Birgit

AU - Rosenberg, Thomas

AU - Duno, Morten

AU - Wibrand, Flemming

AU - Vissing, John

PY - 2017

Y1 - 2017

N2 - We report a proband with Leber hereditary optic neuropathy (LHON), in whom we have identified a novel homoplasmic m.3,395A>G mutation in the ND1 gene. The mutation alters a highly conserved amino acid in codon 30 which previously has been associated with LHON and leads to a severe selective complex I deficiency. By providing further evidence for pathogenicity we conclude that m.3,395A>G is pathogenic. High definition optical coherence tomography of the retina and peripapillary retinal nerve fiber layer (pRNFL) confirms recent reports that retinal ganglion cell loss precedes axonal loss in LHON and is present in the early stage of the disease. Furthermore, evaluation of two unaffected mutation carriers disclosed asymptomatic borderline ganglion cell loss and thin pRNFL in one.

AB - We report a proband with Leber hereditary optic neuropathy (LHON), in whom we have identified a novel homoplasmic m.3,395A>G mutation in the ND1 gene. The mutation alters a highly conserved amino acid in codon 30 which previously has been associated with LHON and leads to a severe selective complex I deficiency. By providing further evidence for pathogenicity we conclude that m.3,395A>G is pathogenic. High definition optical coherence tomography of the retina and peripapillary retinal nerve fiber layer (pRNFL) confirms recent reports that retinal ganglion cell loss precedes axonal loss in LHON and is present in the early stage of the disease. Furthermore, evaluation of two unaffected mutation carriers disclosed asymptomatic borderline ganglion cell loss and thin pRNFL in one.

KW - Complex I deficiency

KW - leber hereditary optic neuropathy

KW - LHON

KW - mitochondrial DNA

KW - ND1 gene

KW - optical coherence tomography

KW - retinal ganglion cell

KW - retinal nerve fiber layer

U2 - 10.1080/13816810.2016.1253108

DO - 10.1080/13816810.2016.1253108

M3 - Journal article

C2 - 28139165

AN - SCOPUS:85011277173

SN - 1381-6810

VL - 38

SP - 480

EP - 485

JO - Ophthalmic Genetics

JF - Ophthalmic Genetics

IS - 5

ER -

Leber hereditary optic neuropathy due to a new ND1 mutation

Abstract

Keywords

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