Associated Papers
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
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
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
Evaluating precision medicine approaches for gene therapy in patient-specific cellular models of Bietti crystalline dystrophy.
Li Y et al.
Jci Insight, 2024
Spectrum of Genetic Variants in the Most Common Genes Causing Inherited Retinal Disease in a Large Molecularly Characterized United Kingdom Cohort.
Lin S et al.
Ophthalmology. Retina, 2024
Longitudinal structure-function analysis of molecularly-confirmed CYP4V2 Bietti Crystalline Dystrophy.
Cheloni R et al.
Eye (london, England), 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
Structural and functional phenotypic features and molecular analysis of Indian patients with Bietti crystalline dystrophy.
Ratra D et al.
Indian Journal of Ophthalmology, 2022
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
Presence of corneal crystals confirms an unusual presentation of Bietti's retinal dystrophy.
Song WK et al.
Ophthalmic Genetics, 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
31317096 (PubMed )
Supplement: mmc1.doc
Current perspectives in Bietti crystalline dystrophy.
García-García GP et al.
Clinical Ophthalmology (auckland, N.z.), 2019
Comprehensive screening of CYP4V2 in a cohort of Chinese patients with Bietti crystalline dystrophy.
Zhang X et al.
Molecular Vision, 2018
Detailed phenotypic and genotypic characterization of bietti crystalline dystrophy.
Halford S et al.
Ophthalmology, 2014
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