Associated Papers
A large animal model of RDH5-associated retinopathy recapitulates important features of the human phenotype.
Occelli LM et al.
Human Molecular Genetics, 2022
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
Compound heterozygous RDH5 mutations in familial fleck retina with night blindness.
Hayashi T et al.
Acta Ophthalmologica Scandinavica, 2006
Structure and function of retinol dehydrogenases of the short chain dehydrogenase/reductase family.
Lidén M et al.
Molecular Aspects of Medicine, 2003
Genetic defects in vitamin A metabolism of the retinal pigment epithelium.
Thompson DA et al.
Developments in Ophthalmology, 2003
Biochemical defects in 11-cis-retinol dehydrogenase mutants associated with fundus albipunctatus.
Lidén M et al.
The Journal of Biological Chemistry, 2001
11-cis retinol dehydrogenase mutations as a major cause of the congenital night-blindness disorder known as fundus albipunctatus.
Gonzalez-Fernandez F et al.
Molecular Vision, 1999
Lack of autofluorescence in fundus albipunctatus associated with mutations in RDH5.
Schatz P et al.
Retina (philadelphia, Pa.), 0
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