Results 1 to 10 of about 595 (159)

Genetic testing for Bietti crystalline dystrophy

The EuroBiotech Journal, 2017
We studied the scientific literature and disease guidelines in order to summarize the clinical utility of the genetic test for Bietti crystalline dystrophy (BCD).
Abeshi Andi, Bruson Alice, Beccari Tommaso, Dundar Munis, Ziccardi Lucia, Bertelli Matteo   +5 more
doaj   +5 more sources

Natural history of progressive vision loss in Bietti crystalline dystrophy: a model-based meta-analysis [PDF]

BMJ Open Ophthalmology
Purpose Bietti crystalline corneoretinal dystrophy (BCD) is an autosomal recessive progressive retinal degenerative disease due to mutations in the CYP4V2 gene.
Wenbin Wei, Qingshan Zheng, Ning Guan, Haihan Zhang, Shiyi Yin, Jinyuan Wang, Qingqing Cheng, Lingxiao Zhang, Hua Lv   +8 more
doaj   +3 more sources

Observation of the characteristics of the natural course of Bietti crystalline dystrophy by fundus fluorescein angiography [PDF]

BMC Ophthalmology, 2021
Background Bietti crystalline dystrophy (BCD) is an autosomal recessive genetic disorder that causes progressive vision loss. Here, 12 patients were followed up for 1–5 years with fundus fluorescein angiography (FFA) to observe BCD disease progression ...
Shengjuan Zhang, Lifei Wang, Zhiqiang Liu, Huijing Sun, Qian Li, Chen Xing, Zhe Xiao, Xiaoyan Peng   +7 more
doaj   +2 more sources

Multimodal imaging features and genetic findings in Bietti crystalline dystrophy [PDF]

BMC Ophthalmology, 2020
Background Bietti crystalline dystrophy (BCD) is a distinct entity of retinitis pigmentosa with a wide range of genotypic and phenotypic variabilities. The goal of the present study was to investigate the morphological, functional and genetic features of
Wei Wang, Wei Chen, Xinyue Bai, Ling Chen   +3 more
doaj   +2 more sources

Enhanced genotype-phenotype analysis using multimodal adaptive optics and 3D protein structure in Bietti Crystalline Dystrophy [PDF]

American Journal of Ophthalmology Case Reports
Purpose: Deep phenotyping of genetic retinal disease using multimodal adaptive optics ophthalmoscopy and protein structure variant analysis. Observations: In a patient with extensive atrophy of the retinal pigment epithelium and yellow deposits in the ...
Aarushi Kumar, Young Joo Sun, Ditte K. Rasmussen, Aubrey Hargrave, Claudia Phillips, Jennifer T. Vu, Mauricio G.S. Costa, Loh-Shan B. Leung, Charles Yu, Alfredo Dubra, Vinit B. Mahajan   +10 more
doaj   +2 more sources

Multicolour Imaging in Bietti's Crystalline Dystrophy

Delhi Journal of Ophthalmology, 2019
Bietti crystalline dystrophy (BCD) is a rare dystrophy that is characterized by numerous crystals in the peripapillary retina and the posterior pole.
Mridhula Sekar, Guruprasad Ayachit, Shrinivas Joshi, S V Kathyayini, Apoorva Ayachit   +4 more
doaj   +3 more sources

Uncovering the role of ferroptosis in Bietti crystalline dystrophy and potential therapeutic strategies [PDF]

Cell Communication and Signaling
Purpose Bietti crystalline dystrophy (BCD) is an inherited retinal degeneration disease caused by mutations in the CYP4V2 gene. Currently, there is no clinical therapy approach available for BCD patients.
Chang Shen, Qianjie Yang, Kuangqi Chen, Huiling Ma, Xiawei Wang, Jianping Tong, Ye Shen, Hongguang Cui   +7 more
doaj   +2 more sources

Preclinical studies of an AAV8-CYP4V2 gene therapy VGR-R01 for the treatment of Bietti crystalline dystrophy [PDF]

Molecular Therapy: Methods & Clinical Development
Bietti crystalline dystrophy (BCD) is an autosomal recessive disorder caused by loss-of-function mutations in the CYP4V2 gene, characterized by crystal-like lipid deposits in the retina, progressive photoreceptor loss, and retinal pigment epithelium (RPE)
Wenjing Luo, Lu Guo, Liang Lu, Nan Huang, Yezheng Tao, Yufei Zhang, Yanrong Cao, Shin-Shay Tian, Xiaoping Zhao, Xi Zhu   +9 more
doaj   +2 more sources

CYP4V2 mutation screening in an Iranian Bietti crystalline dystrophy pedigree and evidence for clustering of CYP4V2 mutations [PDF]

Journal of Current Ophthalmology, 2019
Purpose: To report the genetic analysis of an Iranian Bietti crystalline dystrophy (BCD)-affected family, and to review previously reported mutations in the gene and assess the distribution of affected amino acids in the encoded protein.
Faezeh Darki, Sahba Fekri, Shaghayegh Farhangmehr, Hamid Ahmadieh, Mohammad Hossein Dehghan, Elahe Elahi   +5 more
doaj   +2 more sources

En face OCT analysis of Bietti's crystalline dystrophy

American Journal of Ophthalmology Case Reports
Objective: To describe the multimodal imaging features, including en face optical coherence tomography (OCT), of Bietti's crystalline dystrophy (BCD). Methods: Wide field fundus photography, autofluorescence (FAF) imaging, and cross sectional and en face
Shilo Voichanski, Neda Abraham, Ahmad Santina, David Sarraf   +3 more
doaj   +5 more sources