A novel recessive RPGRIP1 mutation causing leber congenital amaurosis

Abouzeid, Hana; Othman, I S; Schorderet, D F

doi:10.1055/s-0041-111815

Scientific article

Case report

German

A novel recessive RPGRIP1 mutation causing leber congenital amaurosis

ContributorsAbouzeid, Hana; Othman, I S; Schorderet, D F

Published inKlinische Monatsblätter für Augenheilkunde, vol. 233, no. 4, p. 456-459

Publication date2016

Abstract

Leber congenital amaurosis is an early-onset childhood severe retinal dystrophy, of significant genetic heterogeneity. RPGRIP1 is ubiquitously expressed, but mutations in RPGRIP1 lead to a retina-restricted phenotype, such as Leber congenital amaurosis and cone-rod dystrophy.

Keywords

Egypt
Female
Genes
Recessive/genetics
Genetic Predisposition to Disease/genetics
Humans
Leber Congenital Amaurosis/diagnosis/genetics
Male
Mutation/genetics
Polymorphism
Single Nucleotide/genetics
Proteins/genetics

Affiliation Not a UNIGE publication

Research group

Ophtalmologie expérimentale (925)

Citation (ISO format)

ABOUZEID, Hana, OTHMAN, I S, SCHORDERET, D F. A novel recessive RPGRIP1 mutation causing leber congenital amaurosis. In: Klinische Monatsblätter für Augenheilkunde, 2016, vol. 233, n° 4, p. 456–459. doi: 10.1055/s-0041-111815

Article (Published version)

Identifiers

PID : unige:142388
DOI : 10.1055/s-0041-111815
PMID : 27116508

ISSN of the journal0023-2165

230views

0downloads

Creation09/29/2020 11:40:00 AM

First validation09/29/2020 11:40:00 AM

Update time03/15/2023 10:41:49 PM

Status update03/15/2023 10:41:48 PM

Last indexation01/17/2024 11:00:58 AM

Archive ouverte UNIGE

A novel recessive RPGRIP1 mutation causing leber congenital amaurosis

Leber congenital amaurosis is an early-onset childhood severe retinal dystrophy, of significant genetic heterogeneity. RPGRIP1 is ubiquitously expressed, but mutations in RPGRIP1 lead to a retina-restricted phenotype, such as Leber congenital amaurosis and cone-rod dystrophy.

Technical informations