Associated Papers
Genetic testing results of retinal dystrophies in a diverse population: impact of race and ethnicity.
Miller C et al.
Ophthalmic Genetics, 2025
39763302 (PubMed )
Supplement: supplement_1.xlsx › Supplementary_Table_2
Clinical and Genetic Characteristics of Patients with Peripheral Retinal Flecks in Koreans.
Lim HY et al.
Korean Journal of Ophthalmology : Kjo, 2024
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 with mutations in the RDH5 gene (clinical case)].
Zolnikova IV et al.
Vestnik Oftalmologii, 2021
RDH5-Related Fundus Albipunctatus in a Large Japanese Cohort.
Katagiri S et al.
Investigative Ophthalmology & Visual Science, 2020
Genetic and phenotypic characteristics of four Chinese families with fundus albipunctatus.
Yang G et al.
Scientific Reports, 2017
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
Compound heterozygous RDH5 mutations in familial fleck retina with night blindness.
Hayashi T et al.
Acta Ophthalmologica Scandinavica, 2006
FUNDUS ALBIPUNCTATUS ASSOCIATED WITH CONE DYSFUNCTION.
Kuehlewein L et al.
Retinal Cases & Brief Reports, 0
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