Associated Papers
Decoding the Genetic Puzzle of Inherited Retinal Dystrophies: Novel Insights From a Turkish Cohort.
Demir Ş et al.
Clinical Genetics, 2025
Genetic analysis of congenital stationary night blindness and Oguchi disease in an Indian cohort.
Sundaramurthy S et al.
Acta Ophthalmologica, 2025
Advancements and future directions in Oguchi disease research.
Fan F et al.
International Ophthalmology, 2025
18-Years of single-centre DNA testing in over 7000 index cases with inherited retinal dystrophies and optic neuropathies.
Kiel C et al.
Scientific Reports, 2024
39462066 (PubMed )
Supplement: 41598_2024_77014_MOESM2_ESM.xlsx › solved_patients
New variants and in silico analyses in GRK1 associated Oguchi disease.
Poulter JA et al.
Human Mutation, 2021
Wide-field true-colour imaging and clinical characterization of a novel GRK1 mutation in Oguchi disease.
Ballios BG et al.
Documenta Ophthalmologica. Advances in Ophthalmology, 2020
The first case of Oguchi disease, type 2 in a Polish patient with confirmed GRK1 gene mutation.
Skorczyk-Werner A et al.
Klinika Oczna, 2015
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