Associated Papers
Clinical and Genetic Characteristics of Patients with Peripheral Retinal Flecks in Koreans.
Lim HY et al.
Korean Journal of Ophthalmology : Kjo, 2024
The genetic landscape of inherited retinal dystrophies in Arabs.
Jaffal L et al.
Bmc Medical Genomics, 2023
37127645 (PubMed )
Supplement: 12920_2023_1518_MOESM2_ESM.xlsx › Sheet1
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
A Novel Pathogenic Variant in the RDH5 Gene in a Patient with Fundus Albipunctatus and Severe Macular Atrophy.
You H et al.
Case Reports in Genetics, 2022
Congenital stationary night blindness: an update and review of the disease spectrum in Saudi Arabia.
Almutairi F et al.
Acta Ophthalmologica, 2021
RDH5-Related Fundus Albipunctatus in a Large Japanese Cohort.
Katagiri S et al.
Investigative Ophthalmology & Visual Science, 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
RDH5 retinopathy (fundus albipunctatus) with preserved rod function.
Liu X et al.
Retina (philadelphia, Pa.), 2015
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