Results 21 to 30 of about 37,740 (162)

A Journey towards Improved Quality of Life of a Typist with Retinitis Pigmintosa

Annals of Abbasi Shaheed Hospital and Karachi Medical & Dental College, 2022
: Retinitis pigmentosa (RP) is a group of inherited rod-cone degenerative pathologies that present clinically with similar signs and symptoms. Common fundus findings include bone-spicule pigment formation, attenuated blood vessels in the posterior pole ...
Malab Sana Balouch, Muhammad Shahbaz, Mohammad Moaz Balouch   +2 more
doaj   +1 more source

A mutation in a splicing factor that causes retinitis pigmentosa has a transcriptome-wide effect on mRNA splicing [PDF]

, 2014
Background: Substantial progress has been made in the identification of sequence elements that control mRNA splicing and the genetic variants in these elements that alter mRNA splicing (referred to as splicing quantitative trait loci – sQTLs).
Ramesar, Raj, Lisa Roberts, Korir, Paul K, Cathal Seoighe, Raj Ramesar, Seoighe, Cathal, Paul K Korir, Roberts, Lisa   +7 more
core   +1 more source

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

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

Fundus Autofluorescence Lifetime Patterns in Retinitis Pigmentosa. [PDF]

, 2018
Purpose We investigated whether fundus autofluorescence (FAF) lifetimes in patients with retinitis pigmentosa display a disease-specific lifetime pattern.
Martin S. Zinkernagel, Sebastian Wolf, Schürch, Kaspar Werner, Kaspar Schuerch, Dysli, Chantal-Simone, Zinkernagel, Martin, Chantal Dysli, Escher, Pascal, Pascal Escher, Wolf, Sebastian   +9 more
core   +1 more source

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

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

Functional analysis of A 5' untranslated variant in rhodopsin : implications for the retinitis pigmentosa phenotype [PDF]

, 2011
Retinitis Pigmentosa (RP) is a group of heterogeneous retinal degenerative diseases that predominantly affect rod photoreceptor cells. Symptoms include night blindness and gradual peripheral vision loss, which progresses to a complete loss of vision ...
Akinyi, Maureen Veronica
core  

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