[New mitochondrial DNA mutation in Leber's hereditary optic neuropathy: A case report]

J Fr Ophtalmol. 2018 Jun;41(6):e293-e299. doi: 10.1016/j.jfo.2018.01.004. Epub 2018 Jun 15.

[Article in French]

Authors

M Thulliez¹, B Laudier², C Vignal-Clermont³, G Hardy⁴, P Bonicel⁵

Affiliations

¹ Service d'ophtalmologie, CHR Orléans, 45100 Orléans, France. Electronic address: thulliez.marie@gmail.com.
² Service de génétique médical, CHR Orléans, 45100 Orléans, France.
³ Fondation ophtalmologique Adolphe de Rothchild, 75012 Paris, France.
⁴ Laboratoire de biochimie génétique et moléculaire, CHU de Grenoble, institut de biologie et pathologie, 38700 Grenoble, France.
⁵ Service d'ophtalmologie, CHR Orléans, 45100 Orléans, France.

PMID: 29910133
DOI: 10.1016/j.jfo.2018.01.004

No abstract available

Publication types

Case Reports
Letter

MeSH terms

Adult
DNA Mutational Analysis
DNA, Mitochondrial / genetics*
Fundus Oculi
Humans
Magnetic Resonance Imaging
Male
Mutation, Missense*
Optic Atrophy, Hereditary, Leber / diagnosis
Optic Atrophy, Hereditary, Leber / genetics*
Polymorphism, Single Nucleotide

Substances

DNA, Mitochondrial