Associated Papers
A novel variant in the G-protein receptor kinase (GRK1) causes Oguchi syndrome, type II, in an Egyptian family.
Fathy N et al.
Ophthalmic Genetics, 2026
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
A comprehensive genetic landscape of inherited retinal diseases in a large Pakistani cohort.
Ullah M et al.
Npj Genomic Medicine, 2025
40180963 (PubMed )
Supplement: 41525_2025_488_MOESM2_ESM.xlsx › Sheet1
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
Optimised, Broad NGS Panel for Inherited Eye Diseases to Diagnose 1000 Patients in Poland.
Matczyńska E et al.
Biomedicines, 2024
38927562 (PubMed )
Supplement: biomedicines-12-01355-s001.zip › Table_S2_Patients_and_variants.xlsx › merged_variants_and_patients_co
Burden of Mendelian disorders in a large Middle Eastern biobank.
Aamer W et al.
Genome Medicine, 2024
38584274 (PubMed )
Supplement: 13073_2024_1307_MOESM1_ESM.xlsx › Table_S3
A systematic review of inherited retinal dystrophies in Pakistan: updates from 1999 to April 2023.
Munir A et al.
Bmc Ophthalmology, 2024
38317096 (PubMed )
Supplement: 12886_2024_3319_MOESM2_ESM.xlsx › Supplementary_Table_S2
Oguchi's disease: two cases and literature review.
Dai Y et al.
The Journal of International Medical Research, 2021
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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