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Rigshospitalet - a part of Copenhagen University Hospital
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Leber hereditary optic neuropathy due to a new ND1 mutation

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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 languageEnglish
JournalOphthalmic Genetics
Volume38
Issue number5
Pages (from-to)480-485
Number of pages6
ISSN1381-6810
DOIs
Publication statusPublished - 1 Feb 2017

    Research areas

  • 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

ID: 52119797