Associated Papers
Application of multicolour reflectance imaging for the characterisation of inherited retinal disorders.
Lorenzana-Blanco N et al.
European Journal of Ophthalmology, 2022
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
Short-Wavelength and Near-Infrared Autofluorescence in Patients with Deficiencies of the Visual Cycle and Phototransduction.
Oh JK et al.
Scientific Reports, 2020
32488013 (PubMed )
Supplement: 41598_2020_65763_MOESM1_ESM.pdf
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
Fundus albipunctatus: novel mutations and phenotypic description of Israeli patients.
Pras E et al.
Molecular Vision, 2012
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