Phenotypic variance in Calpain-5 retinal degeneration.
ADNIV
CAPN5
Calpain
Retinal degeneration
Retinitis pigmentosa
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 2020
Jun 2020
Historique:
received:
09
05
2019
revised:
08
01
2020
accepted:
21
02
2020
entrez:
11
4
2020
pubmed:
11
4
2020
medline:
11
4
2020
Statut:
epublish
Résumé
To characterize the phenotype of patients with mild calpain-5 Neovascular Inflammatory Vitreoretinopathy (ADNIV). The The phenotypic penetrance of a specific variant in CAPN5-vitreoretinopathy may vary significantly in severity. Patients with pigmentary retinal dystrophy may consider
Identifiants
pubmed: 32274441
doi: 10.1016/j.ajoc.2020.100627
pii: S2451-9936(20)30023-2
pii: 100627
pmc: PMC7132063
doi:
Types de publication
Case Reports
Langues
eng
Pagination
100627Informations de copyright
© 2020 Published by Elsevier Inc.
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.
Références
PLoS Genet. 2012;8(10):e1003001
pubmed: 23055945
JCI Insight. 2017 Dec 21;2(24):
pubmed: 29263305
Hum Mol Genet. 1992 Dec;1(9):685-9
pubmed: 1284594
Clin Ophthalmol. 2012;6:2037-44
pubmed: 23271883
Hum Mol Genet. 2014 May 15;23(10):2665-77
pubmed: 24381307
Retin Cases Brief Rep. 2018 Oct 08;:
pubmed: 30300311
Ocul Immunol Inflamm. 2019;27(5):693-698
pubmed: 29040051
Cold Spring Harb Mol Case Stud. 2018 Jun 1;4(3):
pubmed: 29472286
Clin Ophthalmol. 2013;7:1339-45
pubmed: 23861576
Hum Mol Genet. 2015 Aug 15;24(16):4584-98
pubmed: 25994508