Associated Papers
Genetic analysis of congenital stationary night blindness and Oguchi disease in an Indian cohort.
Sundaramurthy S et al.
Acta Ophthalmologica, 2025
Pathogenic variation underlying rare diseases in an Arab population: Implications for screening programs.
Jain R et al.
Genetics in Medicine Open, 2025
40893834 (PubMed )
Supplement: mmc1.xlsx › Supplementary_Table_3
Genetic Analysis of 252 Index Cases with Inherited Retinal Diseases Using a Panel of 351 Retinal Genes.
Abu Elasal M et al.
Genes, 2024
39062705 (PubMed )
Supplement: genes-15-00926-s001.zip › Table_S1-revision.xlsx › Tabble_S1
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
Genetic analysis and clinical features of three Chinese patients with Oguchi disease.
Wei X et al.
Documenta Ophthalmologica. Advances in Ophthalmology, 2023
Genetic Analysis of Consanguineous Pakistani Families with Congenital Stationary Night Blindness.
Azhar Baig HM et al.
Ophthalmic Research, 2022
Oguchi's disease: two cases and literature review.
Dai Y et al.
The Journal of International Medical Research, 2021
Comprehensive molecular diagnosis of 179 Leber congenital amaurosis and juvenile retinitis pigmentosa patients by targeted next generation sequencing.
Wang X et al.
Journal of Medical Genetics, 2013
A paradigm shift in the delivery of services for diagnosis of inherited retinal disease.
O'Sullivan J et al.
Journal of Medical Genetics, 2012
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
Macular Dysfunction in Oguchi Disease with the Frequent Mutation 1147delA in the SAG Gene.
Hayashi T et al.
Ophthalmic Research, 2011
Mizuo-Nakamura phenomenon in Oguchi disease due to a homozygous nonsense mutation in the SAG gene.
Sergouniotis PI et al.
Eye (london, England), 2011
Novel mutations in the GRK1 gene in Japanese patients With Oguchi disease.
Oishi A et al.
American Journal of Ophthalmology, 2007
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