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
The genetic landscape of inherited retinal dystrophies in Arabs.
Jaffal L et al.
Bmc Medical Genomics, 2023
37127645 (PubMed )
Supplement: 12920_2023_1518_MOESM2_ESM.xlsx › Sheet1
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
36795063 (PubMed )
Supplement: tvst-12-2-27_s002.xlsx › S2
Crystals deposits in the anterior and posterior lens cortex in Bietti corneo-retinal dystrophy.
Louati Y et al.
Ophthalmic Genetics, 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
31317096 (PubMed )
Supplement: mmc1.doc
Current perspectives in Bietti crystalline dystrophy.
García-García GP et al.
Clinical Ophthalmology (auckland, N.z.), 2019
High-frequency actionable pathogenic exome variants in an average-risk cohort.
Rego S et al.
Cold Spring Harbor Molecular Case Studies, 2018
30487145 (PubMed )
Supplement: supp_mcs.a003178_Supplemental_File_1.xlsx › Sheet1
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
Clinical and molecular findings in three Lebanese families with Bietti crystalline dystrophy: report on a novel mutation.
Haddad NM et al.
Molecular Vision, 2012
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