Detailed Phenotypic and Genotypic Characterization of Bietti Crystalline Dystrophy
نویسندگان
چکیده
منابع مشابه
Characterization of Bietti crystalline dystrophy patients with CYP4V2 mutations.
PURPOSE Mutations of the CYP4V2 gene, a novel family member of the cytochrome P450 genes on chromosome 4q35, have recently been identified in patients with Bietti crystalline dystrophy (BCD). The aim of this study was to investigate the spectrum of mutations in this gene in BCD patients from Singapore, and to characterize their phenotype. METHODS Nine patients with BCD from six families were ...
متن کاملMolecular Analysis and Phenotypic Study in 14 Chinese Families with Bietti Crystalline Dystrophy
PURPOSE To investigate the clinical features and cytochrome P450 family 4 subfamily V polypeptide 2 (CYP4V2) gene mutations in 14 Chinese families with Bietti crystalline dystrophy (BCD). METHODS Seventeen patients from 14 unrelated Chinese families with BCD were recruited for complete clinical ophthalmic examination and genetic study. The 11 exons of CYP4V2 were amplified from genomic DNA of...
متن کاملClinical and genetic features in Italian Bietti crystalline dystrophy patients
AIM The aim of the study was to describe the clinical and genetic features of 15 Italian patients with Bietti crystalline dystrophy (BCD). METHODS All study participants underwent a complete ophthalmological examination, including standard electroretinogram (ERG), optical coherence tomography, microperimetry, autofluorescence and multifocal electroretinogram. The 11 exons of the CYP4V2 gene w...
متن کاملThe metabolism of fatty acids in human Bietti crystalline dystrophy.
PURPOSE To investigate the role of abnormal lipid metabolism in Bietti crystalline dystrophy. METHODS Cultured human lymphocytes and fibroblasts from patients with Bietti crystalline dystrophy (BCD) were incubated in the presence of [(14)C]18:3n-3 or [(14)C]18:2n-6. Incorporation into the cellular lipid pools and further metabolism by desaturation or elongation were monitored by thin-layer ch...
متن کاملOutcome of Macular Hole Surgery in Bietti Crystalline Dystrophy
PURPOSE To describe a 42-year-old man, a known case of Bietti crystalline dystrophy who underwent surgery for unilateral full thickness macular hole. CASE REPORT Clinical features, color fundus photographs, and optical coherence tomography, electroretinography, and electrooculography findings of the patient are reported. His visual acuity improved from counting fingers to 20/50 after pars pla...
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ژورنال
عنوان ژورنال: Ophthalmology
سال: 2014
ISSN: 0161-6420
DOI: 10.1016/j.ophtha.2013.11.042