Associated Papers
Clinical Exome Sequencing: A Genetic Diagnostic Approach for Inherited Retinal Dystrophies.
Barberán-Martínez P et al.
The Journal of Molecular Diagnostics : Jmd, 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
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
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
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
Crystals deposits in the anterior and posterior lens cortex in Bietti corneo-retinal dystrophy.
Louati Y et al.
Ophthalmic Genetics, 2021
Expanding the Phenotypic and Genotypic Spectrum of Bietti Crystalline Dystrophy.
da Palma MM et al.
Genes, 2021
Autofluorescence of choroidal vessels in Bietti's crystalline dystrophy.
Ameri H et al.
Bmj Open Ophthalmology, 2020
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
Identification and population history of CYP4V2 mutations in patients with Bietti crystalline corneoretinal dystrophy.
Jiao X et al.
European Journal of Human Genetics : Ejhg, 2017
Identification of CYP4V2 mutation in 36 Chinese families with Bietti crystalline corneoretinal dystrophy.
Yin X et al.
Experimental Eye Research, 2016
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