Associated Papers
A systematic review of inherited retinal dystrophies in Pakistan: updates from 1999 to April 2023.
Munir A et al.
Bmc Ophthalmology, 2024
A large animal model of RDH5-associated retinopathy recapitulates important features of the human phenotype.
Occelli LM et al.
Human Molecular Genetics, 2022
Novel variants in the RDH5 Gene in a Chinese Han family with fundus albipunctatus.
Qian T et al.
Bmc Ophthalmology, 2022
Genetic Analysis of Consanguineous Pakistani Families with Congenital Stationary Night Blindness.
Azhar Baig HM et al.
Ophthalmic Research, 2022
RDH5-Related Fundus Albipunctatus in a Large Japanese Cohort.
Katagiri S et al.
Investigative Ophthalmology & Visual Science, 2020
A founder RDH5 splice site mutation leads to retinitis punctata albescens in two inbred Pakistani kindreds.
Khan R et al.
Ophthalmic Genetics, 2020
Fundus albipunctatus: review of the literature and report of a novel RDH5 gene mutation affecting the invariant tyrosine (p.Tyr175Phe).
Skorczyk-Werner A et al.
Journal of Applied Genetics, 2015
Congenital stationary night blindness: an analysis and update of genotype-phenotype correlations and pathogenic mechanisms.
Zeitz C et al.
Progress in Retinal and Eye Research, 2015
Novel mutations in RDH5 cause fundus albipunctatus in two consanguineous Pakistani families.
Ajmal M et al.
Molecular Vision, 2012
Novel RDH5 mutation in family with mother having fundus albipunctatus and three children with retinitis pigmentosa.
Wang C et al.
Ophthalmic Genetics, 2008
Compound heterozygous RDH5 mutations in familial fleck retina with night blindness.
Hayashi T et al.
Acta Ophthalmologica Scandinavica, 2006
RDH5 gene mutations and electroretinogram in fundus albipunctatus with or without macular dystrophy: RDH5 mutations and ERG in fundus albipunctatus.
Nakamura M et al.
Documenta Ophthalmologica. Advances in Ophthalmology, 2003
Macular dystrophy in a Japanese family with fundus albipunctatus.
Hotta K et al.
American Journal of Ophthalmology, 2003
Biochemical defects in 11-cis-retinol dehydrogenase mutants associated with fundus albipunctatus.
Lidén M et al.
The Journal of Biological Chemistry, 2001
A high association with cone dystrophy in Fundus albipunctatus caused by mutations of the RDH5 gene.
Nakamura M et al.
Investigative Ophthalmology & Visual Science, 2000
A novel homozygous Gly107Arg mutation in the RDH5 gene in a Japanese patient with fundus albipunctatus with sectorial retinitis pigmentosa.
Sato M et al.
Ophthalmic Research, 0