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Region Hovedstaden - en del af Københavns Universitetshospital
Udgivet

Leber hereditary optic neuropathy due to a new ND1 mutation

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Vis graf over relationer

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.

OriginalsprogEngelsk
TidsskriftOphthalmic Genetics
Vol/bind38
Udgave nummer5
Sider (fra-til)480-485
Antal sider6
ISSN1381-6810
DOI
StatusUdgivet - 1 feb. 2017

ID: 52119797