Results 41 to 50 of about 60,943 (273)

Retinal Hemodynamics in Retinitis Pigmentosa

American Journal of Ophthalmology, 1996
To investigate the retinal hemodynamic changes occurring in patients with retinitis pigmentosa (RP).Bidirectional laser Doppler velocimetry and monochromatic fundus photography were used to determine retinal venous diameter (D), maximum erythrocyte velocity (Vmax), and volumetric blood flow (Q) in the major retinal veins of eight patients with RP and ...
Albert M. Maguire, Juan E. Grunwald, Joan DuPont   +2 more
openaire   +3 more sources

A Case Report of Vogt's Limbal Girdle and Retinitis Pigmentosa in a Thirteen-Year-Old Boy: A Rare and Unusual Association

Case Reports in Ophthalmology, 2015
Aim: To describe a rare case of Vogt's limbal girdle in a boy with retinitis pigmentosa. Methods: A 13-year-old boy from India presented to us with progressive diminution of vision and nyctalopia for 5 years.
A.P. Vignesh, Renuka Srinivasan, Swathi Karanth, Sai Vijitha   +3 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

INVESTIGATION OF RETINITIS PIGMENTOSA [PDF]

Australian Journal of Opthalmology, 1982
AbstractRetinitis pigmentosa is a solitary manifestation o1 separate genetically determined disorders in which there is progressive loss of vision and the appearance of characteristic fundus abnormalities. It is likely that each disease contained within this family of disorders has a different aetiology, a consideration which is important to the ...
openaire   +3 more sources

Retinitis pigmentosa and deafness [PDF]

Journal of the Royal Society of Medicine, 1987
Seventeen patients with retinitis pigmentosa (RP) have been investigated audiologically. Of 9 found to have a significant hearing loss, 6 were examples of Usher's syndrome; these patients had a cochlear pattern of hearing loss. The other 3 were examples of Senior's syndrome, Kearne-Sayre syndrome and Lawrence-Moon-Biedle syndrome respectively.
D M Calver, R P Mills
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 Raj Puri
openaire   +3 more sources

C3- and CR3-dependent microglial clearance protects photoreceptors in retinitis pigmentosa

Journal of Experimental Medicine, 2019
Silverman et al. demonstrate that complement activation features prominently in retinitis pigmentosa in close association with activated microglia. This response mediates adaptive neuroprotection for photoreceptors by facilitating a C3-CR3–dependent ...
Sean M. Silverman, Wenxin Ma, Xu Wang, Lian Zhao, W. Wong   +4 more
semanticscholar   +1 more source

Mitochondrial DNA disorders in neuromuscular diseases in diverse populations

Annals of Clinical and Translational Neurology, EarlyView.
Abstract Neuromuscular features are common in mitochondrial DNA (mtDNA) disorders. The genetic architecture of mtDNA disorders in diverse populations is poorly understood. We analysed mtDNA variants from whole‐exome sequencing data in neuromuscular patients from South Africa, Brazil, India, Turkey and Zambia. In 998 individuals, there were two definite
Fei Gao, Katherine R Schon, Jana Vandrovcova, Özlem Yayıcı Köken, Sharika Raga, Kireshnee Naidu, Maryke Schoonen, Nimita Rani, Pedro Tomaselli, Dipti Baskar, Musambo Kapapa, Ipek Polat, Lindsay A Wilson, Kumarasamy Thangaraj, Uluç Yiş, Bevinahalli N Nandeesh, David Bearden, Michelle Kvalsund, Franclo Henning, Seena Vengalil, Atchayaram Nalini, Claudia F. R. Sobreira, Wilson Marques, Haluk Topoloğlu, Michael G Hanna, Sireesha Yareeda, Venugopalan Y Vishnu, Francois H van der Westhuizen, Izelle Smuts, Surita Meldau, Jo Wilmshurst, Büşranur Çavdarlı, Jeannine Heckmann, Patrick F Chinnery, Rita Horvath   +34 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

Disrupted alternative splicing for genes implicated in splicing and ciliogenesis causes PRPF31 retinitis pigmentosa

Nature Communications, 2018
Mutations in pre-mRNA processing factors (PRPFs) cause autosomal-dominant retinitis pigmentosa (RP), but it is unclear why mutations in ubiquitously expressed genes cause non-syndromic retinal disease.
A. Buskin, Lili Zhu, V. Chichagova, Basudha Basu, S. Mozaffari-Jovin, David Dolan, A. Droop, J. Collin, Revital Bronstein, Sudeep Mehrotra, M. Farkas, Gerrit Hilgen, K. White, K. Pan, A. Treumann, D. Hallam, K. Bialas, Git W. Chung, Carla B. Mellough, Yuchun Ding, N. Krasnogor, S. Przyborski, S. Zwolinski, J. Al-Aama, Sameer E. Alharthi, Yaobo Xu, G. Wheway, K. Szymanska, M. Mckibbin, C. Inglehearn, D. Elliott, S. Lindsay, R. Ali, D. Steel, L. Armstrong, E. Sernagor, H. Urlaub, E. Pierce, R. Lührmann, S. Grellscheid, Colin A. Johnson, M. Lako   +41 more
semanticscholar   +1 more source