Mild retinitis pigmentosa, including sector retinitis pigmentosa associated with 2 pathogenic variants in
Usher syndrome
ciliopathies
dystrophy
genetic hearing loss
inherited retinal disease
inherited retinal dystrophy
retinitis pigmentosa
sector retinitis pigmentosa
Journal
Ophthalmic genetics
ISSN: 1744-5094
Titre abrégé: Ophthalmic Genet
Pays: England
ID NLM: 9436057
Informations de publication
Date de publication:
02 Aug 2024
02 Aug 2024
Historique:
medline:
2
8
2024
pubmed:
2
8
2024
entrez:
2
8
2024
Statut:
aheadofprint
Résumé
Biallelic pathogenic variants in Clinical examination included medical history, comprehensive ophthalmologic examination, and multimodal retinal imaging, and in case 1 and 2, full-field electroretinography (ERG). Genetic analysis was performed in all cases, and segregation testing of proband relatives was performed in case 1 and 3. Three unrelated cases presented with variable clinical phenotype for USH1 and were found to have two pathogenic variants in Patients harbouring c.5237 G > A: p.Arg1746Gln variants in
Sections du résumé
BACKGROUND
UNASSIGNED
Biallelic pathogenic variants in
MATERIALS AND METHODS
UNASSIGNED
Clinical examination included medical history, comprehensive ophthalmologic examination, and multimodal retinal imaging, and in case 1 and 2, full-field electroretinography (ERG). Genetic analysis was performed in all cases, and segregation testing of proband relatives was performed in case 1 and 3.
RESULTS
UNASSIGNED
Three unrelated cases presented with variable clinical phenotype for USH1 and were found to have two pathogenic variants in
CONCLUSION
UNASSIGNED
Patients harbouring c.5237 G > A: p.Arg1746Gln variants in
Identifiants
pubmed: 39092760
doi: 10.1080/13816810.2024.2362210
doi:
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM