Condition: BIETTI CRYSTALLINE CORNEORETINAL DYSTROPHY


rs387906385 in ABCA4 gene and BIETTI CRYSTALLINE CORNEORETINAL DYSTROPHY PMID 30718709 2019 Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.

rs149684063 in CYP4V2 gene and BIETTI CRYSTALLINE CORNEORETINAL DYSTROPHY PMID 22772592 2012 CYP4V2 in Bietti's crystalline dystrophy: ocular localization, metabolism of ω-3-polyunsaturated fatty acids, and functional deficit of the p.H331P variant.

PMID 15042513 2004 Bietti crystalline corneoretinal dystrophy is caused by mutations in the novel gene CYP4V2.

PMID 22693542 2012 Exome sequencing identifies compound heterozygous mutations in CYP4V2 in a pedigree with retinitis pigmentosa.

PMID 23661369 2013 Next-generation sequencing-based molecular diagnosis of a Chinese patient cohort with autosomal recessive retinitis pigmentosa.

PMID 25593508 2014 Identification of novel CYP4V2 gene mutations in 92 Chinese families with Bietti's crystalline corneoretinal dystrophy.

PMID 21565171 2011 Identification of CYP4V2 mutation in 21 families and overview of mutation spectrum in Bietti crystalline corneoretinal dystrophy.

PMID 22772592 2012 We demonstrated that CYP4V2 protein is expressed at high levels in ocular target tissues of BCD, that the enzyme is metabolically active toward PUFAs, and that the functional deficit among patients with BCD who carry the H331P variant is most likely a consequence of the instability of the mutant protein.

PMID 26971461 2016 Identification of CYP4V2 mutation in 36 Chinese families with Bietti crystalline corneoretinal dystrophy.

PMID 28051075 2017 Identification and population history of CYP4V2 mutations in patients with Bietti crystalline corneoretinal dystrophy.

PMID 25356976 2015 Genotype-phenotype correlation and mutation spectrum in a large cohort of patients with inherited retinal dystrophy revealed by next-generation sequencing.

PMID 25611614 2015 Molecular genetic testing in clinical diagnostic assessments that demonstrate correlations in patients with autosomal recessive inherited retinal dystrophy.

PMID 24739949 2014 Molecular analysis and phenotypic study in 14 Chinese families with Bietti crystalline dystrophy.

PMID 23793346 2013 Optical coherence tomographic findings of crystal deposits in the lens and cornea in Bietti crystalline corneoretinopathy associated with mutation in the CYP4V2 gene.

PMID 15937078 2005 Recessive mutations in the CYP4V2 gene in East Asian and Middle Eastern patients with Bietti crystalline corneoretinal dystrophy.

PMID 19508456 2010 Crystal deposits on the lens capsules in Bietti crystalline corneoretinal dystrophy associated with a mutation in the CYP4V2 gene.

PMID 26865810 2016 Bietti Crystalline Retinopathy Confirmed by Mutation of CYP4V2 Gene in a Korean Patient.

PMID 26085992 2015 Novel CYP4V2 mutations associated with Bietti crystalline corneoretinal dystrophy in Chinese patients.

PMID 17962476 2007 Genotype phenotype analysis of Bietti's crystalline dystrophy in patients with CYP4V2 mutations.

PMID 25629076 2015 Novel insights into the molecular pathogenesis of CYP4V2-associated Bietti's retinal dystrophy.

PMID 15860296 2005 Screening for mutations in CYP4V2 gene in Japanese patients with Bietti's crystalline corneoretinal dystrophy.