Associated Papers
Novel compound heterozygous CNGA3 mutation associated with retinal cone dystrophy.
Sun R et al.
Experimental and Therapeutic Medicine, 2025
Structure-function analysis of CNGA3-associated achromatopsia patient variants complements clinical genomics in pathogenicity determination.
Rasmussen DK et al.
Orphanet Journal of Rare Diseases, 2025
Genetic testing results of retinal dystrophies in a diverse population: impact of race and ethnicity.
Miller C et al.
Ophthalmic Genetics, 2025
Monogenic Retinal Diseases Associated With Genes Encoding Phototransduction Proteins: A Review.
Wong WM et al.
Clinical & Experimental Ophthalmology, 2025
Mutations in retinal cyclic nucleotide-gated channels identified in familial cases of inherited retinal dystrophies from Pakistan.
Akhtar Z et al.
Molecular Vision, 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
Spectrum of Genetic Variants in the Most Common Genes Causing Inherited Retinal Disease in a Large Molecularly Characterized United Kingdom Cohort.
Lin S et al.
Ophthalmology. Retina, 2024
Optimised, Broad NGS Panel for Inherited Eye Diseases to Diagnose 1000 Patients in Poland.
Matczyńska E et al.
Biomedicines, 2024
Whole-Exome Sequencing in Turkish Patients with Inherited Retinal Dystrophies Reveals Novel Variants in Ten Genes.
Basdemirci M et al.
Molecular Syndromology, 2024
Longitudinal Assessment of OCT-Based Measures of Foveal Cone Structure in Achromatopsia.
Grissim G et al.
Investigative Ophthalmology & Visual Science, 2024
Towards Uncovering the Role of Incomplete Penetrance in Maculopathies through Sequencing of 105 Disease-Associated Genes.
Hitti-Malin RJ et al.
Biomolecules, 2024
Molecular and Clinical Characterization of CNGA3 and CNGB3 Genes in Brazilian Patients Affected with Achromatopsia.
Amaral RAS et al.
Genes, 2023
Genetic and Clinical Characterization of Danish Achromatopsia Patients.
Andersen MKG et al.
Genes, 2023
Frequency-dependent retinal responsiveness to sinusoidal electrical stimulation in achromatopsia.
Jung R et al.
Experimental Eye Research, 2023
Genetic epidemiology of inherited retinal diseases in a large patient cohort followed at a single center in Italy.
Karali M et al.
Scientific Reports, 2022
Comprehensive variant spectrum of the CNGA3 gene in patients affected by achromatopsia.
Solaki M et al.
Human Mutation, 2022
Disease Progression in CNGA3 and CNGB3 Retinopathy; Characteristics of Slovenian Cohort and Proposed OCT Staging Based on Pooled Data from 126 Patients from 7 Studies.
Tekavčič Pompe M et al.
Current Issues in Molecular Biology, 2021
Examining Whether AOSLO-Based Foveal Cone Metrics in Achromatopsia and Albinism Are Representative of Foveal Cone Structure.
Litts KM et al.
Translational Vision Science & Technology, 2021
Clinical and Molecular Characterization of Achromatopsia Patients: A Longitudinal Study.
Brunetti-Pierri R et al.
International Journal of Molecular Sciences, 2021
Optical Gap Biomarker in Cone-Dominant Retinal Dystrophy.
Oh JK et al.
American Journal of Ophthalmology, 2020
Safety and Vision Outcomes of Subretinal Gene Therapy Targeting Cone Photoreceptors in Achromatopsia: A Nonrandomized Controlled Trial.
Fischer MD et al.
Jama Ophthalmology, 2020
Prevalence of mutations in inherited retinal diseases: A comparison between the United States and India.
Yohe S et al.
Molecular Genetics & Genomic Medicine, 2020
The GenomeAsia 100K Project enables genetic discoveries across Asia.
Unknown Author
Nature, 2019
Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.
Wright CF et al.
American Journal of Human Genetics, 2019
Adaptive Optics Retinal Imaging in CNGA3-Associated Achromatopsia: Retinal Characterization, Interocular Symmetry, and Intrafamilial Variability.
Georgiou M et al.
Investigative Ophthalmology & Visual Science, 2019
Multimodal imaging including semiquantitative short-wavelength and near-infrared autofluorescence in achromatopsia.
Matet A et al.
Scientific Reports, 2018
Clinical and Genetic Evaluation of a Cohort of Pediatric Patients with Severe Inherited Retinal Dystrophies.
Di Iorio V et al.
Genes, 2017
The Clinical Phenotype of CNGA3-Related Achromatopsia: Pretreatment Characterization in Preparation of a Gene Replacement Therapy Trial.
Zobor D et al.
Investigative Ophthalmology & Visual Science, 2017
Molecular findings from 537 individuals with inherited retinal disease.
Ellingford JM et al.
Journal of Medical Genetics, 2016
Novel mutations in the gene for α-subunit of retinal cone cyclic nucleotide-gated channels in a Japanese patient with congenital achromatopsia.
Kuniyoshi K et al.
Japanese Journal of Ophthalmology, 2016
Canine CNGA3 Gene Mutations Provide Novel Insights into Human Achromatopsia-Associated Channelopathies and Treatment.
Tanaka N et al.
Plos One, 2015
Spectral-domain optical coherence tomography staging and autofluorescence imaging in achromatopsia.
Greenberg JP et al.
Jama Ophthalmology, 2014
Retinal structure and function in achromatopsia: implications for gene therapy.
Sundaram V et al.
Ophthalmology, 2014
Five novel CNGB3 gene mutations in Polish patients with achromatopsia.
Wawrocka A et al.
Molecular Vision, 2014
Early signs of longitudinal progressive cone photoreceptor degeneration in achromatopsia.
Thomas MG et al.
The British Journal of Ophthalmology, 2012
Next-generation genetic testing for retinitis pigmentosa.
Neveling K et al.
Human Mutation, 2012
The disease-causing mutations in the carboxyl terminus of the cone cyclic nucleotide-gated channel CNGA3 subunit alter the local secondary structure and interfere with the channel active conformational change.
Matveev AV et al.
Biochemistry, 2010
Genetic etiology and clinical consequences of complete and incomplete achromatopsia.
Thiadens AA et al.
Ophthalmology, 2009
Mutations in CNGA3 impair trafficking or function of cone cyclic nucleotide-gated channels, resulting in achromatopsia.
Reuter P et al.
Human Mutation, 2008
Functional analysis of rod monochromacy-associated missense mutations in the CNGA3 subunit of the cone photoreceptor cGMP-gated channel.
Muraki-Oda S et al.
Biochemical and Biophysical Research Communications, 2007
Molecular genetics of infantile-onset retinal dystrophies.
Moradi P et al.
Eye (london, England), 2007
Clinical and genetic features of Hungarian achromatopsia patients.
Varsányi B et al.
Molecular Vision, 2005
Transmembrane S1 mutations in CNGA3 from achromatopsia 2 patients cause loss of function and impaired cellular trafficking of the cone CNG channel.
Patel KA et al.
Investigative Ophthalmology & Visual Science, 2005
[Molecular genetic findings in patients with congenital cone dysfunction. Mutations in the CNGA3, CNGB3, or GNAT2 genes].
Kellner U et al.
Der Ophthalmologe : Zeitschrift Der Deutschen Ophthalmologischen Gesellschaft, 2004