Results 41 to 50 of about 595 (159)

Gene replacement therapy in Bietti crystalline corneoretinal dystrophy: an open-label, single-arm, exploratory trial

Signal Transduction and Targeted Therapy
Bietti crystalline corneoretinal dystrophy is an inherited retinal disease caused by mutations in CYP4V2, which results in blindness in the working-age population, and there is currently no available treatment. Here, we report the results of the first-in-
Jinyuan Wang, Jinlu Zhang, Shicheng Yu, Hongyan Li, Shaohong Chen, Jingting Luo, Haibo Wang, Yuxia Guan, Haihan Zhang, Shiyi Yin, Huili Wang, Heping Li, Junle Liu, Jingyuan Zhu, Qiong Yang, Ying Sha, Chuan Zhang, Yuhang Yang, Xuan Yang, Xifang Zhang, Xiuli Zhao, Likun Wang, Liping Yang, Wenbin Wei   +23 more
doaj   +2 more sources

Crystalline Subtype of Pre-Descemetic Corneal Dystrophy

Journal of Ophthalmic & Vision Research, 2014
Purpose: To report corneal findings in a familial case of the crystalline subtype of pre- Descemetic corneal dystrophy. Case Report: A 19-year-old girl and her 44-year-old mother were found to have asymptomatic, bilateral, punctiform and multi-colored ...
Rosa Dolz-Marco, Roberto Gallego-Pinazo, María Dolores Pinazo-Durán2, Manuel Díaz-Llopis   +3 more
doaj   +1 more source

Optical coherence tomography angiography in Bietti crystalline dystrophy. [PDF]

Eur J Ophthalmol, 2023
Purpose Bietti crystalline dystrophy (BCD) is a rare autosomal recessive retinal dystrophy caused by pathogenic variants of CYP4V2 gene and characterized by shiny yellow deposits in the retina and progressive atrophy of the retinal pigment epithelium ...
Montemagni M, Arrigo A, Battaglia Parodi M, Bianco L, Antropoli A, Malegori A, Bandello F, Tranfa F, Costagliola C.   +8 more
europepmc   +2 more sources

Swept-source Optical Coherence Tomography Angiography in a Patient with Bietti Crystalline Dystrophy Followed for Ten Years [PDF]

Türk Oftalmoloji Dergisi, 2019
A woman with Bietti’s crystalline dystrophy (BCD) was first examined when she was 27 years of age and has been followed for 10 more years. The disease course was monitored initially with spectral domain-optical coherence tomography and then with swept ...
Şefik Can İpek, Ziya Ayhan, Sibel Kadayıfçılar, Ali Osman Saatci   +3 more
doaj   +2 more sources

A Bietti Crystalline Dystrophy Mouse Model Shows Increased Sensitivity to Light-Induced Injury. [PDF]

Int J Mol Sci, 2022
Bietti crystalline corneo-retinal dystrophy (BCD) is an autosomal recessive inherited retinal dystrophy characterized by multiple shimmering yellow-white deposits in the posterior pole of the retina in association with atrophy of the retinal pigment ...
Ma Z, Jiao X, Agbaga MP, Anderson RE, Qian H, Li Q, Dong L, Hejtmancik JF, Hejtmancik JF.   +8 more
europepmc   +2 more sources

Bilateral retinal rescue through unilateral AAV8-CYP4V2 gene delivery in Bietti crystalline dystrophy [PDF]

Molecular Therapy: Methods & Clinical Development
Laura A. Jenny, Yao Li, Stephen H. Tsang
doaj   +2 more sources

AAV2-mediated gene therapy for Bietti crystalline dystrophy provides functional CYP4V2 in multiple relevant cell models. [PDF]

Sci Rep, 2022
Bietti crystalline dystrophy (BCD) is an inherited retinal disease (IRD) caused by mutations in the CYP4V2 gene. It is a relatively common cause of IRD in east Asia.
Wang JH, Lidgerwood GE, Daniszewski M, Hu ML, Roberts GE, Wong RCB, Hung SSC, McClements ME, Hewitt AW, Pébay A, Hickey DG, Edwards TL.   +11 more
europepmc   +3 more sources

Conditional loss of Ube3d in the retinal pigment epithelium accelerates age‐associated alterations in the retina of mice

The Journal of Pathology, Volume 261, Issue 4, Page 442-454, December 2023., 2023
Abstract Several studies have suggested a correlation between the ubiquitin‐proteasome system (UPS) and age‐related macular degeneration (AMD), with its phenotypic severity ranging from mild visual impairment to blindness, but the mechanism for UPS dysfunction contributing to disease progression is unclear.
Tianchang Tao, Ningda Xu, Jiarui Li, Mingwei Zhao, Xiaoxin Li, Lvzhen Huang   +5 more
wiley   +1 more source

International consortium for innovation and quality: An industry perspective on the nonclinical and early clinical development of intravitreal drugs

Clinical and Translational Science, Volume 16, Issue 5, Page 723-741, May 2023., 2023
Abstract The eye, which is under constant exposure to environmental pathogens, has evolved various anatomic and immunological barriers critical to the protection of tissues lacking regenerative capacity, and the maintenance of a clear optic pathway essential to vision.
Ingrid M. Pruimboom‐Brees, Swati Gupta, Nagendra Chemuturi, Helen S. Booler, Erik Nimz, Meg Ferrell Ramos, Antonello Caruso, Katie F. Maass, Vladimir Bantseev, Qihong Huang, Mary P. Choules, Jesse C. Nussbaum, Jitendra Kanodia, Christopher Thompson, Chandrasekar Durairaj   +14 more
wiley   +1 more source

Victorian evolution of inherited retinal diseases natural history registry (VENTURE study): Rationale, methodology and initial participant characteristics

Clinical &Experimental Ophthalmology, Volume 50, Issue 7, Page 768-780, September/October 2022., 2022
Abstract Background Emerging treatments are being developed for inherited retinal diseases, requiring a clear understanding of natural progression and a database of potential participants for clinical trials. This article describes the rationale, study design and methodology of the Victorian Evolution of inherited retinal diseases NaTUral history ...
Alexis Ceecee Britten‐Jones, Fleur O'Hare, Thomas L. Edwards, Lauren N. Ayton, the VENTURE Study Consortium   +4 more
wiley   +1 more source