Leber's hereditary optic neuropathy like disease in
Leber's hereditary optic neuropathy
MT-ATP6
Optic atrophy
Journal
American journal of ophthalmology case reports
ISSN: 2451-9936
Titre abrégé: Am J Ophthalmol Case Rep
Pays: United States
ID NLM: 101679941
Informations de publication
Date de publication:
Jun 2024
Jun 2024
Historique:
received:
13
12
2023
revised:
15
04
2024
accepted:
19
04
2024
medline:
17
5
2024
pubmed:
17
5
2024
entrez:
17
5
2024
Statut:
epublish
Résumé
To describe a case with Leber's hereditary optic neuropathy (LHON) like optic atrophy in the presence of A 20-year-old patient with a history of mild developmental delay, mild cognitive impairment, and positional tremor presented with subacute painless visual loss over a few weeks. Mitochondrial genome sequencing revealed a variant in Rare variants in
Identifiants
pubmed: 38756953
doi: 10.1016/j.ajoc.2024.102070
pii: S2451-9936(24)00080-X
pmc: PMC11096717
doi:
Types de publication
Case Reports
Langues
eng
Pagination
102070Informations de copyright
© 2024 The Authors.
Déclaration de conflit d'intérêts
The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper. The authors have no conflict of interest.