Associated Papers
Axial Length Profiles in Inherited Retinal Diseases-A Genotypic and Phenotypic Analysis.
Zhang L et al.
Investigative Ophthalmology & Visual Science, 2025
Congenital Stationary Night Blindness: Structure, Function and Genotype-Phenotype Correlations in a Cohort of 122 Patients.
Katta M et al.
Ophthalmology. Retina, 2024
Characterizing Retinal Sensitivity and Structure in Congenital Stationary Night Blindness: A Combined Microperimetry and OCT Study.
Yu M et al.
Investigative Ophthalmology & Visual Science, 2024
HIGH MYOPIA IS COMMON IN PATIENTS WITH X-LINKED RETINOPATHIES: Myopic Maculopathy Analysis.
Huang L et al.
Retina (philadelphia, Pa.), 2024
Panel-based genetic testing for inherited retinal disease screening 176 genes.
Sheck LHN et al.
Molecular Genetics & Genomic Medicine, 2021
A Novel Splice-Site Variant in CACNA1F Causes a Phenotype Synonymous with Åland Island Eye Disease and Incomplete Congenital Stationary Night Blindness.
Mahmood U et al.
Genes, 2021
Sensing through Non-Sensing Ocular Ion Channels.
Kabra M et al.
International Journal of Molecular Sciences, 2020
Where are the missing gene defects in inherited retinal disorders? Intronic and synonymous variants contribute at least to 4% of CACNA1F-mediated inherited retinal disorders.
Zeitz C et al.
Human Mutation, 2019
Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.
Jespersgaard C et al.
Scientific Reports, 2019
Clinical Characteristics, Mutation Spectrum, and Prevalence of Åland Eye Disease/Incomplete Congenital Stationary Night Blindness in Denmark.
Hove MN et al.
Investigative Ophthalmology & Visual Science, 2016
Congenital stationary night blindness: an analysis and update of genotype-phenotype correlations and pathogenic mechanisms.
Zeitz C et al.
Progress in Retinal and Eye Research, 2015
What can naturally occurring mutations tell us about Ca(v)1.x channel function?
Stockner T et al.
Biochimica Et Biophysica Acta, 2013
Calcium channelopathies: voltage-gated calcium channels.
Adams PJ et al.
Sub-cellular Biochemistry, 2007
Thirty distinct CACNA1F mutations in 33 families with incomplete type of XLCSNB and Cacna1f expression profiling in mouse retina.
Wutz K et al.
European Journal of Human Genetics : Ejhg, 2002
A summary of 20 CACNA1F mutations identified in 36 families with incomplete X-linked congenital stationary night blindness, and characterization of splice variants.
Boycott KM et al.
Human Genetics, 2001