Associated Papers
Gene therapy for Bietti crystalline corneoretinal dystrophy: A phase 1/2 clinical trial.
Yang L et al.
Molecular Therapy : the Journal of the American Society of Gene Therapy, 2026
Comprehensive genotypic and phenotypic analysis of Bietti crystalline dystrophy: insights from a large cohort study.
Yang X et al.
Science China. Life Sciences, 2025
Hidden Splicing Variants in Inherited Retinal Degeneration: Discovery and Functional Insight.
Huang YS et al.
Investigative Ophthalmology & Visual Science, 2025
Spectrum of inherited eye disorders at Hong Kong Children's Hospital: insights into the local genetic landscape and experience with ocular genetic services.
Cheng SSW et al.
Hong Kong Medical Journal = Xianggang Yi Xue Za Zhi, 2025
Unravelling CYP4V2: Clinical features, genetic insights, pathogenic mechanisms and therapeutic strategies in Bietti crystalline corneoretinal dystrophy.
Jia R et al.
Progress in Retinal and Eye Research, 2025
Enhanced genotype-phenotype analysis using multimodal adaptive optics and 3D protein structure in Bietti Crystalline Dystrophy.
Kumar A et al.
American Journal of Ophthalmology Case Reports, 2025
Genetic disease risks of under-represented founder populations in New York City.
Isshiki M et al.
Plos Genetics, 2025
The implementation of genome sequencing in rare genetic diseases diagnosis: a pilot study from the Hong Kong genome project.
Lam WKJ et al.
The Lancet Regional Health. Western Pacific, 2025
Pathogenic variation underlying rare diseases in an Arab population: Implications for screening programs.
Jain R et al.
Genetics in Medicine Open, 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
Genetic disease risks of under-represented founder populations in New York City.
Isshiki M et al.
Medrxiv : the Preprint Server for Health Sciences, 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
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
Longitudinal structure-function analysis of molecularly-confirmed CYP4V2 Bietti Crystalline Dystrophy.
Cheloni R et al.
Eye (london, England), 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
Nationwide genetic analysis of more than 600 families with inherited eye diseases in Argentina.
Schlottmann PG et al.
Npj Genomic Medicine, 2023
OUTER RETINAL TUBULATION IN BIETTI CRYSTALLINE DYSTROPHY ASSOCIATED WITH THE RETINAL PIGMENT EPITHELIUM ATROPHY.
Wang Y et al.
Retina (philadelphia, Pa.), 2023
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
PREDICTED PROTEIN STRUCTURE VARIATIONS INDICATE THE CLINICAL PRESENTATION OF CYP4V2-RELATED BIETTI CRYSTALLINE DYSTROPHY.
Chan LW et al.
Retina (philadelphia, Pa.), 2022
Crystals deposits in the anterior and posterior lens cortex in Bietti corneo-retinal dystrophy.
Louati Y et al.
Ophthalmic Genetics, 2021
Genetic characteristics and epidemiology of inherited retinal degeneration in Taiwan.
Chen TC et al.
Npj Genomic Medicine, 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
PSCs Reveal PUFA-Provoked Mitochondrial Stress as a Central Node Potentiating RPE Degeneration in Bietti's Crystalline Dystrophy.
Zhang Z et al.
Molecular Therapy : the Journal of the American Society of Gene Therapy, 2020
Application of targeted panel sequencing and whole exome sequencing for 76 Chinese families with retinitis pigmentosa.
Dan H et al.
Molecular Genetics & Genomic Medicine, 2020
A comprehensive assessment of Next-Generation Sequencing variants validation using a secondary technology.
Zheng J et al.
Molecular Genetics & Genomic Medicine, 2019
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
Longitudinal characterisation of function and structure of Bietti crystalline dystrophy: report on a novel homozygous mutation in CYP4V2.
Lockhart CM et al.
The British Journal of Ophthalmology, 2018
Novel CYP4V2 mutations associated with Bietti crystalline corneoretinal dystrophy in Chinese patients.
Tian R et al.
International Journal of Ophthalmology, 2015
Detailed phenotypic and genotypic characterization of bietti crystalline dystrophy.
Halford S et al.
Ophthalmology, 2014
A novel mutation in the CYP4V2 gene in a Chinese patient with Bietti's crystalline dystrophy.
Song Y et al.
International Ophthalmology, 2013
A Novel Compound Heterozygous Mutation in the CYP4V2 Gene in a Japanese Patient with Bietti's Crystalline Corneoretinal Dystrophy.
Yokoi Y et al.
Case Reports in Ophthalmology, 2011
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
Genotype phenotype analysis of Bietti's crystalline dystrophy in patients with CYP4V2 mutations.
Lai TY et al.
Investigative Ophthalmology & Visual Science, 2007
Novel mutations in the CYP4V2 gene associated with Bietti crystalline corneoretinal dystrophy.
Shan M et al.
Molecular Vision, 2005
Clinical and molecular findings in three Japanese patients with crystalline retinopathy.
Jin ZB et al.
Japanese Journal of Ophthalmology, 0