Scientific article
Case report

A novel recessive RPGRIP1 mutation causing leber congenital amaurosis

Published inKlinische Monatsblätter für Augenheilkunde, vol. 233, no. 4, p. 456-459
Publication date2016

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.

  • 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
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
Main files (1)
Article (Published version)
ISSN of the journal0023-2165

Technical informations

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 indexation08/30/2023 11:35:38 PM
All rights reserved by Archive ouverte UNIGE and the University of GenevaunigeBlack