Associated Papers
Atypical presentation of Oguchi disease with severe cystoid macular edema and compound heterozygous SAG pathogenic variants.
Mariscal J et al.
Ophthalmic Genetics, 2026
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 › unsolved_patients
Genetic analysis and clinical features of three Chinese patients with Oguchi disease.
Wei X et al.
Documenta Ophthalmologica. Advances in Ophthalmology, 2023
Mutation analysis reveals novel and known mutations in SAG gene in first two Egyptian families with Oguchi disease.
Tawfik CA et al.
Bmc Ophthalmology, 2022
Updating the Genetic Landscape of Inherited Retinal Dystrophies.
García Bohórquez B et al.
Frontiers in Cell and Developmental Biology, 2021
Increasing the yield in targeted next-generation sequencing by implicating CNV analysis, non-coding exons and the overall variant load: the example of retinal dystrophies.
Eisenberger T et al.
Plos One, 2013
A Chinese family with Oguchi's disease due to compound heterozygosity including a novel deletion in the arrestin gene.
Huang L et al.
Molecular Vision, 2012
Mutation analysis of 272 Spanish families affected by autosomal recessive retinitis pigmentosa using a genotyping microarray.
Ávila-Fernández A et al.
Molecular Vision, 2010
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