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
Determinants of diagnostic yield in a multi-ethnic Asian inherited retinal disease cohort.
Lieviant JA et al.
European Journal of Human Genetics : Ejhg, 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
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
Crystalline Hepatopathy Associated With Bietti Crystalline Dystrophy: A Striking Manifestation of Disordered Fatty Acid Metabolism.
Dulken BW et al.
The American Journal of Surgical Pathology, 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
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
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
Expanding the Phenotypic and Genotypic Spectrum of Bietti Crystalline Dystrophy.
da Palma MM et al.
Genes, 2021
Whole-exome mutational landscape of neuroendocrine carcinomas of the gallbladder.
Liu F et al.
Signal Transduction and Targeted Therapy, 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
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
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
Clinical and genetic features in Italian Bietti crystalline dystrophy patients.
Rossi S et al.
The British Journal of 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