Complete congenital stationary night blindness associated with a novel
Aged
Asian People
/ genetics
Electroretinography
Eye Diseases, Hereditary
/ diagnosis
Female
Genetic Diseases, X-Linked
/ diagnosis
Humans
Japan
/ epidemiology
Male
Middle Aged
Mutation, Missense
Myopia
/ diagnosis
Night Blindness
/ diagnosis
Pedigree
Photoreceptor Cells, Vertebrate
/ physiology
Proteoglycans
/ genetics
Slit Lamp Microscopy
Exome Sequencing
NYX gene
X-linked inheritance
high myopia
mutation
retinal bipolar cell
Journal
Ophthalmic genetics
ISSN: 1744-5094
Titre abrégé: Ophthalmic Genet
Pays: England
ID NLM: 9436057
Informations de publication
Date de publication:
08 2021
08 2021
Historique:
pubmed:
27
3
2021
medline:
28
1
2022
entrez:
26
3
2021
Statut:
ppublish
Résumé
Complete congenital stationary night blindness (CSNB) is a retinal disorder thought to be non-progressive. The purpose of this study was to characterize the clinical and genetic findings of middle-aged and older adult patients with X-linked complete CSNB. Three male CSNB patients (aged 62, 72, and 51 years) and one unaffected female carrier in a Japanese family were included in this study. Whole-exome sequencing (WES) was performed to determine the disease-causing variants. Co-segregation was confirmed in the family members. We performed a comprehensive ophthalmic examination on each patient. In the 62-year-old patient, a novel hemizygous variant (c.648 C > A; p.Asn216Lys) of the We identified a novel missense
Sections du résumé
BACKGROUND
Complete congenital stationary night blindness (CSNB) is a retinal disorder thought to be non-progressive. The purpose of this study was to characterize the clinical and genetic findings of middle-aged and older adult patients with X-linked complete CSNB.
METHODS
Three male CSNB patients (aged 62, 72, and 51 years) and one unaffected female carrier in a Japanese family were included in this study. Whole-exome sequencing (WES) was performed to determine the disease-causing variants. Co-segregation was confirmed in the family members. We performed a comprehensive ophthalmic examination on each patient.
RESULTS
In the 62-year-old patient, a novel hemizygous variant (c.648 C > A; p.Asn216Lys) of the
CONCLUSIONS
We identified a novel missense
Identifiants
pubmed: 33769208
doi: 10.1080/13816810.2021.1904422
doi:
Substances chimiques
NYX protein, human
0
Proteoglycans
0
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM