Associated Papers
Genetic analysis of congenital stationary night blindness and Oguchi disease in an Indian cohort.
Sundaramurthy S et al.
Acta Ophthalmologica, 2025
Shared and divergent contribution of vitamin A and oxytocin to the aetiology of autism spectrum disorder.
Wang T et al.
Computational and Structural Biotechnology Journal, 2023
38213898 (PubMed )
Supplement: mmc2.xlsx › RIVs_in_VARGs
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
Phenotypic variability in RDH5 retinopathy (Fundus Albipunctatus).
Sergouniotis PI et al.
Ophthalmology, 2011
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