Results 31 to 40 of about 30,772 (202)

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

Subfoveal intrachoroidal cavitation secondary to full-thickness macular hole in a case of retinitis pigmentosa

Indian Journal of Ophthalmology. Case Reports, 2021
We report a rare case of subfoveal intrachoroidal cavitation secondary to full-thickness macular hole in case of retinitis pigmentosa. Intrachoroidal cavitation was typically described in myopic eyes in peripapillary region and North Carolina macular ...
Pradeep G Tekade, Neha Namdeo
doaj   +1 more source

Retinitis pigmentosa and schizophrenia

European Psychiatry, 1998
SummaryThere have been previous suggestions in the literature of a link between schizophrenia and retinitis pigmentosa (RP) or its associated syndromes. In this article, we describe two cases of schizophrenía and two cases of delusional disorder occurring in patients with RP.
C, McDonald, P, Kenna, T, Larkin
openaire   +2 more sources

Unilateral retinitis pigmentosa [PDF]

Clinical and Experimental Optometry, 2010
Retinitis pigmentosa is a group of hereditary disorders, the common feature of which is a progressive deterioration in vision due to degeneration of the retina.
Ajit, Thakur, Lila, Puri
openaire   +2 more sources

Photovoltaic Stimulation of Mouse and Pig Retina With Pyrolytic Carbon Microelectrodes Integrated on High‐Density Silicon Solar Cell Arrays

Advanced Healthcare Materials, EarlyView.
In this study, we fabricate photovoltaic retinal implants with pyrolytic carbon electrodes and test their ability to stimulate mouse and pig retinas when illuminated with near‐infrared light. We find increased spiking activity in both animal models compared to spontaneous activity and TTX controls and analyze the spike amplitude, latency and frequency.
Akihiro Matsumoto, Pratik Kusumanchi, Jesper Guldsmed Madsen, Asbjørn Cortnum Jørgensen, Gisele Alves dos Reis Benatto, Sune Thorsteinsson, Peter Behrensdorff Poulsen, Keisuke Yonehara, Toke Bek, Stephan Sylvest Keller, Rasmus Schmidt Davidsen   +10 more
wiley   +1 more source

Smart Nanotechnologies for Multimodal Neuromodulation and Brain Interfacing

Advanced Science, EarlyView.
Recent advances in smart nanotechnologies are expanding the toolbox for brain interfacing, from wireless neuromodulation and high‐resolution sensing to targeted delivery within the central nervous system. By combining responsive nanomaterials with bioinspired design, these platforms enable multimodal interactions with neurons and glia, while also ...
Tommaso Curiale, Marie Celine Lefevre, Alessio Carmignani, Maria Cristina Ceccarelli, Matteo Battaglini, Attilio Marino, Gianni Ciofani   +6 more
wiley   +1 more source

Large‐scale Whole‐Exome Sequencing Defines the Protein‐Coding Architecture of Retinal Structure, Visual Function, and Major Blinding Diseases

Advanced Science, EarlyView.
Large‐scale whole‐exome sequencing in 356,982 UK Biobank participants defines the protein‐coding architecture of retinal structure, visual function, and major blinding diseases. Pleiotropic genes, including CFI, C3, and RIOX1, bridge multiple retinal phenotypes, while experimental validation of FYB2 implicates RPE barrier dysfunction, providing ...
Jianqing Li, Yijun Ge, Jingxiao Du, Liu Yang, Bangsheng Wu, Chenyue Hang, Mengxi Shen, Yimin Mao, Ting Zhang, Qiyu Bo, Tianyuan Zhao, Yutian Jiao, Yazhi Wang, Shunxiang Gao, Jieqiong Chen, Junran Sun, Tong Li, Huixun Jia, Yang Dou, Wei Cheng, Xiaoling Wan, Jintai Yu, Xiaodong Sun, Bai Lu   +23 more
wiley   +1 more source

Long-term safety of human retinal progenitor cell transplantation in retinitis pigmentosa patients

Stem Cell Research & Therapy, 2017
Background Retinitis pigmentosa is a common genetic disease that causes retinal degeneration and blindness for which there is currently no curable treatment available.
Yong Liu, Shao Jun Chen, Shi Ying Li, Ling Hui Qu, Xiao Hong Meng, Yi Wang, Hai Wei Xu, Zhi Qing Liang, Zheng Qin Yin   +8 more
doaj   +1 more source

Driving with retinitis pigmentosa

Ophthalmic Genetics, 2023
To establish the proportion of patients with retinitis pigmentosa (RP) meeting the Australian fitness to drive (FTD) visual standards. A prospective consecutive case series of patients with a clinical or genetic diagnosis of RP. Data on age at symptom onset, current driving status, inheritance pattern, better eye visual acuity (BEVA), binocular ...
Rachael C. Heath Jeffery, Johnny Lo, Jennifer A. Thompson, Tina M. Lamey, Terri L. McLaren, John N. DeRoach, Miguel S. Kabilio, Fred K. chen   +7 more
openaire   +3 more sources

Therapeutic Gene Editing of APOE4 in Sporadic Alzheimer's Disease via Prime Editor 7

Advanced Science, EarlyView.
Prime Editor 7‐mediated conversion of APOE4 to APOE3 alleviates Alzheimer's disease‐associated pathology in AD mouse models and patient‐derived neurons and improves cognitive performance in vivo, supporting therapeutic genome editing as a promising strategy for APOE4‐associated neurodegeneration.
Yunkyung Kim, Gaeun Lee, Saemin An, Hanseul Park, Hongwon Kim, Jisung Kim, Soi Kang, Sumin Kim, Daeyeol Kwon, Jeonghyun Park, Yerim Hwang, Seonghun Kim, Xiuwen Yuan, Jaehoon Jeong, Hamin Lee, Hui Kwon Kim, Jongpil Kim   +16 more
wiley   +1 more source