Associated Papers
THE TARGET SIGN: A Near Infrared Feature and Multimodal Imaging in a Pluri-Ethnic Cohort with RDH5-Related Fundus Albipunctatus.
Newman H et al.
Retina (philadelphia, Pa.), 2022
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
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
Cone and rod dysfunction in fundus albipunctatus with RDH5 mutation: an electrophysiological study.
Niwa Y et al.
Investigative Ophthalmology & Visual Science, 2005
FUNDUS ALBIPUNCTATUS ASSOCIATED WITH CONE DYSFUNCTION.
Kuehlewein L et al.
Retinal Cases & Brief Reports, 0
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