Leber hereditary optic neuropathy in a family with two primary pathogenic variants: Report of a pedigree and review of the literature

González Martín-Moro, J. ; Miralles Pechuan, V. ; Fuentes Vega, I. ; Domingo Gordo, B. ; Montoya, J. (Universidad de Zaragoza)

Resumen: Three primary mtDNA point pathogenic variants: m.11778G>A, m.3460G>A and m.14484T>C are responsible for 90% of Leber hereditary optic neuropathy (LHON) cases [1]. The first patient harboring two primary pathogenic variants was reported in 1995 [2]. The combination of two primary pathogenic variants in the same subject is uncommon, and the goal of this paper is to describe three members of the same Spanish family that harbor two primary pathogenic variants...

Idioma: Inglés

DOI: 10.1016/j.jfo.2025.104494

Año: 2025

Publicado en: Journal français d'ophtalmologie 48, 5 (2025), 104494 [6 pp.]
ISSN: 0181-5512

Tipo y forma: (PostPrint)

Área (Departamento): Área Bioquímica y Biolog.Mole. (Dpto. Bioq.Biolog.Mol. Celular)