Results 31 to 40 of about 54,484 (289)

The Concurrent Use of Medical Imaging Modalities and Innovative Treatments to Combat Retinitis Pigmentosa [PDF]

arXiv, 2022
Retinitis pigmentosa (RP), one of the leading causes of vision loss and blindness globally, is a progressive retinal disease involving the degradation of photoreceptors (7) and/or retinal pigment epithelial cells (14). Affecting approximately 1 in 4000 people, RP is caused by a series of genetic mutations; each specific mutation presents a specific ...
arxiv  

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

Intrinsic signal optoretinography of dark adaptation abnormality due to rod degeneration [PDF]

arXiv, 2022
Significance: Multiple eye diseases such as age-related macular degeneration, diabetic retinopathy, and retinitis pigmentosa can cause photoreceptor dysfunction. Rod photoreceptors are known to be more vulnerable than cone photoreceptors. Therefore, functional assessment of rod photoreceptors is important for early detection of eye diseases.
arxiv  

Genetic analysis for two italian siblings with usher syndrome and schizophrenia. [PDF]

, 2012
Usher syndrome is a group of autosomal recessive genetic disorders characterized by deafness, retinitis pigmentosa, and sometimes vestibular areflexia.
Article Id, Daniela Domanico, Enzo Maria Vingolo, Marcella Nebbioso, Paolo Trabucco, Serena Fragiotta   +5 more
core   +3 more sources

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

Homozygosity Mapping and Genetic Analysis of Autosomal Recessive Retinal Dystrophies in 144 Consanguineous Pakistani Families. [PDF]

, 2017
PurposeThe Pakistan Punjab population has been a rich source for identifying genes causing or contributing to autosomal recessive retinal degenerations (arRD).
Akram, Javed, Ayyagari, Radha, Cabrera, Patricia E, Chen, Jianjun, Chen, Yabin, Govindarajan, Gowthaman, Gupta, Nikhil, Hejtmancik, J Fielding, Huang, Li, Jiang, Dan, Jiao, Xiaodong, Jin, Chongfei, Khan, Shaheen N, Li, Jiali, Li, Lin, M'hamdi, Oussama, Ma, Xiaoyin, Ma, Yan, Ma, Zhiwei, Naeem, Muhammad Asif, Riazuddin, S Amer, Riazuddin, Sheikh, Sieving, Paul A, Sun, Wenmin, Tanwar, Mukesh   +24 more
core   +1 more source

Intrinsic signal optoretinography of dark adaptation kinetics [PDF]

arXiv, 2021
Delayed dark adaptation due to impaired rod photoreceptor homeostasis has been reported as the earliest symptom of eye diseases such as age-related macular degeneration, diabetic retinopathy, and retinitis pigmentosa. Objective measurement of dark adaptation can facilitate early diagnosis to enable prompt intervention to prevent vision losses. However,
arxiv  

arrEYE : a customized platform for high-resolution copy number analysis of coding and noncoding regions of known and candidate retinal dystrophy genes and retinal noncoding RNAs [PDF]

, 2017
Purpose: Our goal was to design a customized microarray, arrEYE, for high-resolution copy number variant (CNV) analysis of known and candidate genes for inherited retinal dystrophy (iRD) and retina expressed noncoding RNAs (ncRNAs).
Bauwens, Miriam, Cannoodt, Robrecht, Coppieters, Frauke, De Baere, Elfride, De Jaegere, Sarah, Leroy, Bart, Menten, Björn, Sante, Tom, Steyaert, Wouter, Van Cauwenbergh, Caroline, Van Laethem, Thalia, Van Schil, Kristof   +11 more
core   +2 more sources

Frequency-Rank Correlations of Rhodopsin Mutations with Tuned Hydropathic Roughness Based on Self-Organized Criticality [PDF]

, 2012
The behavior of disease-linked mutations of membrane proteins is especially simple in rhodopsin, where they are well-studied, as they are responsible for retinitis pigmentosa, RP (retinal degeneration). Here we show that the frequency of occurrence of single RP mutations is strongly influenced by their posttranslational survival rates, and that this ...
arxiv   +1 more source