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Leber hereditary optic neuropathy due to a new ND1 mutation

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@article{075cc2c2439945a6bd5646d6e60dd09e,
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 = "Adolescent, Adult, DNA, Mitochondrial, Female, Humans, Middle Aged, Mutation, NADH Dehydrogenase, Nerve Fibers, Optic Atrophy, Hereditary, Leber, Polymerase Chain Reaction, Retinal Ganglion Cells, Tomography, Optical Coherence, Visual Acuity, Visual Fields, Young Adult, Case Reports, Journal Article",
author = "Patrick Soldath and Marianne Wegener and Birgit Sander and Thomas Rosenberg and Morten Duno and Flemming Wibrand and John Vissing",
year = "2017",
month = "2",
day = "1",
doi = "10.1080/13816810.2016.1253108",
language = "English",
volume = "38",
pages = "480--485",
journal = "Ophthalmic Genetics",
issn = "1381-6810",
publisher = "Informa Healthcare",
number = "5",

}

RIS

TY - JOUR

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 - 2017/2/1

Y1 - 2017/2/1

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 - Adolescent

KW - Adult

KW - DNA, Mitochondrial

KW - Female

KW - Humans

KW - Middle Aged

KW - Mutation

KW - NADH Dehydrogenase

KW - Nerve Fibers

KW - Optic Atrophy, Hereditary, Leber

KW - Polymerase Chain Reaction

KW - Retinal Ganglion Cells

KW - Tomography, Optical Coherence

KW - Visual Acuity

KW - Visual Fields

KW - Young Adult

KW - Case Reports

KW - Journal Article

U2 - 10.1080/13816810.2016.1253108

DO - 10.1080/13816810.2016.1253108

M3 - Journal article

VL - 38

SP - 480

EP - 485

JO - Ophthalmic Genetics

JF - Ophthalmic Genetics

SN - 1381-6810

IS - 5

ER -

ID: 52119797