Associated Papers
Age-Stratified Genetic Spectrum of Retinitis Pigmentosa in Korean Patients: Predominance of RPGR Variants in Early-Onset Disease.
Hong YJ et al.
Annals of Laboratory Medicine, 2025
Comprehensive genotypic and phenotypic analysis of Bietti crystalline dystrophy: insights from a large cohort study.
Yang X et al.
Science China. Life Sciences, 2025
Investigating Microperimetric Features in Bietti Crystalline Dystrophy Patients: A Cross-Sectional Longitudinal Study in a Large Cohort.
Xu Y et al.
Investigative Ophthalmology & Visual Science, 2024
Bietti's crystalline dystrophy: genotyping and deep qualitative and quantitative phenotyping in preparation for clinical trials.
Li Q et al.
The British Journal of Ophthalmology, 2024
Clinician-Driven Reanalysis of Exome Sequencing Data From Patients With Inherited Retinal Diseases.
Surl D et al.
Jama Network Open, 2024
Gene replacement therapy in Bietti crystalline corneoretinal dystrophy: an open-label, single-arm, exploratory trial.
Wang J et al.
Signal Transduction and Targeted Therapy, 2024
Clinical and genetic characterization of a large cohort of Chinese patients with Bietti crystalline retinopathy.
Li H et al.
Graefe's Archive for Clinical and Experimental Ophthalmology = Albrecht Von Graefes Archiv Fur Klinische Und Experimentelle Ophthalmologie, 2024
An In-Depth Single-Gene Worldwide Carrier Frequency and Genetic Prevalence Analysis of CYP4V2 as the Cause of Bietti Crystalline Dystrophy.
Hanany M et al.
Translational Vision Science & Technology, 2023
Genotype and Ocular Phenotype in Sixteen Chinese Patients with Bietti Corneoretinal Crystalline Dystrophy.
Dai H et al.
Current Eye Research, 2022
Crystals deposits in the anterior and posterior lens cortex in Bietti corneo-retinal dystrophy.
Louati Y et al.
Ophthalmic Genetics, 2021
Generation of a human induced pluripotent stem cell line from a Bietti crystalline corneoretinal dystrophy patient with CYP4V2 mutations.
Wu S et al.
Stem Cell Research, 2021
Evaluation of the Genetic Variation Spectrum Related to Corneal Dystrophy in a Large Cohort.
Li W et al.
Frontiers in Cell and Developmental Biology, 2021
CYP4V2 mutation screening in an Iranian Bietti crystalline dystrophy pedigree and evidence for clustering of CYP4V2 mutations.
Darki F et al.
Journal of Current Ophthalmology, 2019
Current perspectives in Bietti crystalline dystrophy.
García-García GP et al.
Clinical Ophthalmology (auckland, N.z.), 2019
Novel mutations in CYP4V2 in Bietti corneoretinal crystalline dystrophy: Next-generation sequencing technology and genotype-phenotype correlations.
Meng XH et al.
Molecular Vision, 2019
Next generation sequencing-based molecular diagnosis of retinitis pigmentosa: identification of a novel genotype-phenotype correlation and clinical refinements.
Wang F et al.
Human Genetics, 2014
A novel mutation in the CYP4V2 gene in a Chinese patient with Bietti's crystalline dystrophy.
Song Y et al.
International Ophthalmology, 2013
Identification of CYP4V2 mutation in 21 families and overview of mutation spectrum in Bietti crystalline corneoretinal dystrophy.
Xiao X et al.
Biochemical and Biophysical Research Communications, 2011
Finding homes for orphan cytochrome P450s: CYP4V2 and CYP4F22 in disease states.
Kelly EJ et al.
Molecular Interventions, 2011
Screening for mutations in CYP4V2 gene in Japanese patients with Bietti's crystalline corneoretinal dystrophy.
Wada Y et al.
American Journal of Ophthalmology, 2005
CYP4V2 mutations in two Japanese patients with Bietti's crystalline dystrophy.
Gekka T et al.
Ophthalmic Research, 0
Clinical and molecular findings in three Japanese patients with crystalline retinopathy.
Jin ZB et al.
Japanese Journal of Ophthalmology, 0