Results 31 to 40 of about 53,967 (228)

Identification of a novel RHO heterozygous nonsense mutation in a Chinese family with autosomal dominant retinitis pigmentosa

BMC Ophthalmology, 2021
Background To explore the molecular genetic cause of a four-generation autosomal dominant retinitis pigmentosa family in China. Methods Targeted region sequencing was performed to detect the potential mutation, and Sanger sequencing was used to validate ...
Wei Liu, Ruru Guo, Huijie Hao, Jian Ji
doaj   +1 more source

Widening use of dexamethasone implant for the treatment of macular edema [PDF]

, 2017
Sustained-release intravitreal 0.7 mg dexamethasone (DEX) implant is approved in Europe for the treatment of macular edema related to diabetic retinopathy, branch retinal vein occlusion, central retinal vein occlusion, and non-infectious uveitis.
Avitabile T., Bonfiglio V., Fallico M., Fichera S., Longo A., Macchi I., Pizzo A., Rapisarda C., Reibaldi M., Russo A.   +9 more
core   +2 more sources

Long-Term Visual Field Progression in X-Linked Retinitis Pigmentosa Patients

Diagnostics
We present an image that illustrates long-term visual field progression in patients with X-linked retinitis pigmentosa (XLRP) due to the retinitis pigmentosa GTPase regulator (RPGR) and retinitis pigmentosa 2 protein (RP2) gene variants.
Alvilda Hemmingsen Steensberg, Sermed Al-Hamdani, Michael Stormly Hansen, Oliver Niels Klefter, Mette Bertelsen, Steffen Hamann   +5 more
doaj   +1 more source

A hypomorphic variant in EYS detected by genome-wide association study contributes toward retinitis pigmentosa

Communications Biology, 2021
Koji Nishiguchi et al. identify three genetic variants within the EYS gene that are associated with retinitis pigmentosa using a genome-wide association study.
Koji M. Nishiguchi, Fuyuki Miya, Yuka Mori, Kosuke Fujita, Masato Akiyama, Takashi Kamatani, Yoshito Koyanagi, Kota Sato, Toru Takigawa, Shinji Ueno, Misato Tsugita, Hiroshi Kunikata, Katarina Cisarova, Jo Nishino, Akira Murakami, Toshiaki Abe, Yukihide Momozawa, Hiroko Terasaki, Yuko Wada, Koh-Hei Sonoda, Carlo Rivolta, Tatsuhiko Tsunoda, Motokazu Tsujikawa, Yasuhiro Ikeda, Toru Nakazawa   +24 more
doaj   +1 more source

Physiopathological Implications of 7TM Receptors [PDF]

, 2010
Seven-transmembrane (7TM) receptors are one of the most important proteins involved in perception of extracellular stimuli and regulation of variety of intracellular signaling pathways.
Cygankiewicz, Adam
core   +2 more sources

Aptamer‐Based Delivery Systems for VEGF and NGF Modulation in Ocular Therapies

Advanced Healthcare Materials, EarlyView.
Aptamer‐based delivery systems targeting NGF and VEGF hold significant potential for precise and sustained treatment of complex diseases affecting both the anterior and posterior segments of the eye. This review critically summarizes current strategies for NGF and VEGF delivery as well as VEGF sequestration, providing a clinical perspective on how ...
Nadine Best, Gizem Karabiyik, Gerd Geerling, Sarah Barbara Zwingelberg, Gregor Lang, Martin Humenik   +5 more
wiley   +1 more source

Rpgrip1 is required for rod outer segment development and ciliary protein trafficking in zebrafish [PDF]

, 2017
The authors would like to thank the Royal Society of London, the National Eye Research Centre, the Visual Research Trust, Fight for Sight, the W.H. Ross Foundation, the Rosetrees Trust, and the Glasgow Children’s Hospital Charity for supporting this work.
A Eblimit, A Hameed, AF Wright, AI Hollander den, B Kennedy, BW Draper, C Insinna, C Turney, CA Murga-Zamalloa, CM Louie, CS Mellersh, D Deretic, D Mustafi, DH Hong, EM Morrow, F Liu, G Stearns, G Ying, H Patil, H Wang, HH Arts, J Kim, J Wang, J Won, JC Booij, JE Westfall, JM Corless, JP Boylan, KL Cerveny, KL Coene, L Sang, MM Humphries, MV Nachury, O Rinner, OL Moritz, P Castagnet, PD Alfinito, PH Balm, R Bachmann-Gagescu, R Roepman, R Roepman, S Gerber, SC Neuhauss, SE Brockerhoff, SR Patnaik, TA Mavlyutov, TP Dryja, V Traverso, VS Lopes, X Shu, X Shu, X Shu., Y Wada., Y Zhao, YV Makhankov   +54 more
core   +4 more sources

Cis‐ and Trans‐Regulatory Factors Independently Shape Phenotypic Heterogeneity of Retinitis Pigmentosa

Advanced Science, EarlyView.
A zebrafish model carrying an identical human RHO S334X allele reveals two independent genetic layers shaping retinitis pigmentosa (RP) severity: a protective 3‐bp cis‐regulatory insertion that attenuates transgene expression, and a dominant trans‐acting modifier that restores a severe phenotype.
Cong Cui, Kotone Nakagawa, Takumi Tateno, Ayaka Dan, Dexin Meng, Yoshihiro Omori, Soma Tomihara, Suzuri Okamoto, Shigeru Sato, Motokazu Tsujikawa   +9 more
wiley   +1 more source

Bilateral Intravitreal Dexamethasone Implant for Retinitis Pigmentosa-Related Macular Edema

Case Reports in Ophthalmology, 2013
Purpose: To report the efficacy of intravitreal dexamethasone implant in a patient with retinitis pigmentosa and bilateral cystoid macular edema unresponsive to topical carbonic anhydrase inhibitors.
Ali Osman Saatci, Ozlem Barut Selver, Goktug Seymenoglu, Aylin Yaman   +3 more
doaj   +1 more source

A Defective Crosstalk Between Neurons and Müller Glial Cells in the rd1 Retina Impairs the Regenerative Potential of Glial Stem Cells [PDF]

, 2019
Müller glial cells (MGC) are stem cells in the retina. Although their regenerative capacity is very low in mammals, the use of MGC as stem cells to regenerate photoreceptors (PHRs) during retina degenerations, such as in retinitis pigmentosa, is being ...
Ayala Peña, Victoria Belen, Craft, Cheryl Mae, Dibo, Marcos Javier, Garelli, Andres, German, Olga Lorena, Politi, Luis Enrique, Rotstein, Nora Patricia, Turpaud Barrera, Axel Hector Roberto, Vallese Maurizi, Harmonie Agostina, Volonté, Yanel Andrea, Zanetti, Samanta Romina   +10 more
core   +1 more source