A Wolfram-like syndrome family: Case report.
WFS1 gene
optic atrophy
sensorineural hearing loss
wolfram-like syndrome
Journal
European journal of ophthalmology
ISSN: 1724-6016
Titre abrégé: Eur J Ophthalmol
Pays: United States
ID NLM: 9110772
Informations de publication
Date de publication:
12 Mar 2024
12 Mar 2024
Historique:
medline:
12
3
2024
pubmed:
12
3
2024
entrez:
12
3
2024
Statut:
aheadofprint
Résumé
Wolfram-like syndrome (WFLS) is an autosomal dominant inherited disease characterized by a single heterozygous pathogenic variant in the We reported a case of a 10-year-old boy and his family members who initially experienced hearing impairment (HI), followed by optic atrophy. Genetic testing revealed the presence of a Wolfram-like syndrome, a rare neurodegenerative genetic disorder, manifested as deafness, optic atrophy, and diabetes mellitus. There hasn't been a definite treatment yet. Early identification of the variant in the
Sections du résumé
BACKGROUND
BACKGROUND
Wolfram-like syndrome (WFLS) is an autosomal dominant inherited disease characterized by a single heterozygous pathogenic variant in the
CASE PRESENTATION
METHODS
We reported a case of a 10-year-old boy and his family members who initially experienced hearing impairment (HI), followed by optic atrophy. Genetic testing revealed the presence of a
CONCLUSION
CONCLUSIONS
Wolfram-like syndrome, a rare neurodegenerative genetic disorder, manifested as deafness, optic atrophy, and diabetes mellitus. There hasn't been a definite treatment yet. Early identification of the variant in the
Identifiants
pubmed: 38470317
doi: 10.1177/11206721241237552
doi:
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
11206721241237552Déclaration de conflit d'intérêts
Declaration of conflicting interestsThe author(s) declared no potential conflicts of interest with respect to the research, authorship, and/or publication of this article.