Results 91 to 100 of about 595 (159)

Characterization of Bietti crystalline dystrophy patients with CYP4V2 mutations [PDF]

, 2005
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).
Adrian H C Koh, Kit Yeung, Chong-Lye Ang, Kelvin Y C Lee, Tin Aung, Eranga N Vithana, Victor H K Yong   +6 more
core  

Choriocapillaris flow deficit in Bietti crystalline dystrophy detected using optical coherence tomography angiography

, 2017
Background/AimsThis study aimed to evaluate blood flow in the choriocapillaris in patients with Bietti crystalline dystrophy (BCD) with CYP4V2 mutations using optical coherence tomography angiography (OCTA), and to explore the parameters associated with ...
Kenji Ishihara, Takako Hirashima, Ken Ogino, Akitaka Tsujikawa, Masako Sugahara, Tomoko Hasegawa, Munemitsu Yoshikawa, Maho Oishi, Masayuki Hata, Manabu Miyata, Akio Oishi   +10 more
core   +1 more source

Bietti Crystalline Corneoretinal Dystrophy Is Caused by Mutations in the Novel Gene Cyp4v2

, 2008
Bietti crystalline corneoretinal dystrophy (BCD) is an autosomal recessive retinal dystrophy characterized by multiple glistening intraretinal crystals scattered over the fundus, a characteristic degeneration of the retina, and sclerosis of the choroidal
Li, Anren; Jiao, Xiaodong; Munier, Francis L.; Schorderet, Daniel F.; Yao, Wenliang; Iwata, Fumino; Hayakawa, Mutsuko; Kanai, Atsushi; Chen, Muh Shy; Lewis, Richard Alan; Heckenlively, John; Weleber, Richard G.; Traboulsi, Elias I.; Zhang, Qingjiong; Xiao, Xueshan, 陳慕師   +1 more
core  

Biettis’ Crystalline Dystrophy

Delhi Journal of Ophthalmology, 2010
Amar Dev, Snigdha Sen, Shalini Wadhwa
openaire   +2 more sources

Geography, genes, and germs: An evolutionary entanglement

Biomedical Journal
This journal issue presents an article on genomic surveillance and phylogenetic analysis for monitoring SARS-CoV-2, alongside reviews of recent advances in the treatment of hepatocellular carcinoma and gastric cancer, and current insights into mpox.
Aila Akosua Kattner
doaj   +1 more source

An Overview of Rare and Unusual Clinical Features of Bietti Crystalline Dystrophy

, 2014
Bietti crystalline dystrophy (BCD) is a rare disease presenting with the appearance of intraretinal crystalline deposits and varying degrees of chorioretinal atrophy commencing at the posterior pole. Within time, intraretinal crystals gradually disappear
Doruk, Hasan Can, Saatci, Ali Osman
core  

IRE1α-mediated endoplasmic reticulum stress response regulates oxidative damage in CYP4V2 deficient human retinal pigment epithelial cells

Biomedical Journal
Background: Given the role of polyunsaturated fatty acid (PUFA) overload and mitochondrial dysfunction in retinal pigment epithelium (RPE) cells in causing retinal degeneration in Bietti crystalline dystrophy (BCD), we aimed to identify the pathways ...
Yu-Ting Hsiao, Chang-Chun Hsiao, Jong-Jer Lee   +2 more
doaj   +1 more source

CHARACTERIZATION OF MACULAR NEOVASCULARIZATION IN BIETTI CRYSTALLINE DYSTROPHY USING MULTIMODAL IMAGING MODALITIES. [PDF]

Retina, 2023
Li Q, Zhang S, Kang L, Wang D, Jiao X, Hejtmancik JF, Wang L, Peng X.   +7 more
europepmc   +1 more source

Bietti crystalline dystrophy [PDF]

, 2020
openaire   +1 more source

OUTER RETINAL TUBULATION IN BIETTI CRYSTALLINE DYSTROPHY ASSOCIATED WITH THE RETINAL PIGMENT EPITHELIUM ATROPHY. [PDF]

Retina, 2023
Wang Y, Chen J, Sun J, Li T, Yu S, Gong Y, Yu Y, Wan X, Jia H, Wu J, Yuan F, Shen X, Wang Z, Qiao T, Wu Q, Xu Y, Wang Z, Yang C, Qu J, Chen J, Sun X, Shanghai Inherited Retinal Diseases (SHIRD) Study Group.   +21 more
europepmc   +1 more source