Results 21 to 30 of about 54,484 (289)

Simulating Vision Impairment in Virtual Reality -- A Comparison of Visual Task Performance with Real and Simulated Tunnel Vision [PDF]

, 2023
Purpose: In this work, we explore the potential and limitations of simulating gaze-contingent tunnel vision conditions using Virtual Reality (VR) with built-in eye tracking technology. This approach promises an easy and accessible way of expanding study populations and test groups for visual training, visual aids, or accessibility evaluations. However,
arxiv   +1 more source

Homozygous GRN mutations: unexpected phenotypes and new insights into pathological and molecular mechanisms [PDF]

Brain - A Journal of Neurology , Oxford University Press (OUP), 2020, 143 (1), pp.303-319, 2020
Homozygous mutations in the progranulin gene (GRN) are associated with neuronal ceroid lipofuscinosis 11 (CLN11), a rare lysosomal-storage disorder characterized by cerebellar ataxia, seizures, retinitis pigmentosa, and cognitive disorders, usually beginning between 13 and 25 years of age.
arxiv   +1 more source

A detailed clinical and molecular survey of subjects with nonsyndromic USH2A retinopathy reveals an allelic hierarchy of disease-causing variants. [PDF]

, 2015
Defects in USH2A cause both isolated retinal disease and Usher syndrome (ie, retinal disease and deafness). To gain insights into isolated/nonsyndromic USH2A retinopathy, we screened USH2A in 186 probands with recessive retinal disease and no hearing ...
A Avila-Fernandez, A Parving, AF Wright, AI den Hollander, Ajoy Vincent, Alison J Coffey, Andrew R Webster, Anthony T Moore, B Dreyer, B Dreyer, BJ Seyedahmadi, BP Leroy, C Bonnet, C Nájera, C Rivolta, C Vache, D Baux, D Domanico, D Vozzi, D Yan, DT Hartong, E Aller, E Aller, E van Wijk, Elise Héon, Eva Lenassi, G Garcia-Garcia, H Buch, HB Steele-Stallard, Heather B Steele-Stallard, I Ebermann, I Ebermann, JD Eudy, JM Leijendeckers, JM Schultz, K Neveling, Karen P Steel, Linda M Luxon, MA Sandberg, Maria Bitner-Glindzicz, MD Weston, P Le Quesne Stabej, RJ Pennings, RJ Pennings, S Bernal, S Bernal, S Le Guédard-Méreuze, SB Schwartz, T Jaijo, TL McGee, W Herrera, W Xu, WJ Kimberling, X Liu, XM Ouyang, XZ Liu, Zheng Li, Zubin Saihan   +57 more
core   +2 more sources

Clinical and whole exome sequencing findings in children from Yunnan Yi minority ethnic group with retinitis pigmentosa: two case reports

Journal of Medical Case Reports, 2023
Background Retinitis pigmentosa is a group of rare hereditary retinal dystrophy diseases that lead to difficulty seeing at night, progressive loss of peripheral field vision (tunnel vision), and eventual loss of central vision.
Yi-shuang Xiao, Wen-Ji He, Hong-chao Jiang, Li Tan, Jing Ma, Zhen Zhang   +5 more
doaj   +1 more source

Retinitis Pigmentosa GTPase Regulator (RPGR) protein isoforms in mammalian retina:insights into X-linked Retinitis Pigmentosa and associated ciliopathies [PDF]

, 2008
Mutations in the cilia-centrosomal protein Retinitis Pigmentosa GTPase Regulator (RPGR) are a frequent cause of retinal degeneration. The RPGR gene undergoes complex alternative splicing and encodes multiple protein isoforms. To elucidate the function of
Akimoto, Anand Swaroop, Baala, Babak Behnam, Badano, Ben Margolis, Besharse, Bird, Boylan, Brancati, Breuer, Buraczynska, Cai, Chang, den Hollander, Deretic, Doxsey, Ferreira, Fishman, Fishman, Fleischman, Follit, Fujita, Fujita, Gieser, Han, Haycraft, Hemant Khanna, Hong, Hong, Hong, Hong, Hong, Hong, Hunter, Iannaccone, Jay, Kapranov, Khanna, Kim, Kirschner, Koenekoop, Linari, Liu, Liu, Low, Lu, Lu, Mavlyutov, Mears, Meindl, Melamud, Moore, Moritz, Neidhardt, Otto, Perrault, Renault, Roepman, Roepman, Rosenbaum, Rosenbaum, Sayer, Schwahn, Sharon, Shirley He, Shu, Shu, Singla, Sunil K. Parapuram, Toby W. Hurd, Tsvetkov, Valente, van Dorp, Vervoort, Vervoort, Wright, Yan, Young, Zhang, Zito   +80 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 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

Comparison of 5-year progression of retinitis pigmentosa involving the posterior pole among siblings by means of SD-OCT: a retrospective study [PDF]

, 2018
The blockchain technology promises to transform finance, money and evengovernments. However, analyses of blockchain applicability and robustness typicallyfocus on isolated systems whose actors contribute mainly by running the consensusalgorithm. Here, we
A Hagiwara, A Schatz, AF Wright, AH Hariri, Andi Abeshi, Barbara Sala, BJ Keats, C Bunker, CA Adackapara, CO Pierrottet, CX Cai, DA Bessant, DB Farber, DG Birch, DT Hartong, E Strettoi, E Zrenner, F Testa, Fabio Patelli, GA Fishman, Giovanni Montesano, GM Acland, H Chung, H Hirakawa, H JR, HS Uy, J Sahel, JW Bainbridge, K Holopigian, L Dacruz, L Gränse, Leonardo Colombo, LH Lima, Luca Rossetti, M Haim, Matteo Bertelli, MS Humayun, Paolo Maltese, RP McNabb, S Bundey, S Grover, SG Jacobson, SP Daiger, T Léveillard, T Léveillard, T Sujirakul, V Busskamp, V Kitiratschky, VG Grigoropoulos, W Berger, W Seiple, Y He, Y Makiyama   +52 more
core   +1 more source

Machine Learning Method for Functional Assessment of Retinal Models [PDF]

, 2022
Challenges in the field of retinal prostheses motivate the development of retinal models to accurately simulate Retinal Ganglion Cells (RGCs) responses. The goal of retinal prostheses is to enable blind individuals to solve complex, reallife visual tasks.
arxiv   +1 more source

Loss of function mutations in RP1 are responsible for retinitis pigmentosa in consanguineous familial cases. [PDF]

, 2016
PurposeThis study was undertaken to identify causal mutations responsible for autosomal recessive retinitis pigmentosa (arRP) in consanguineous families.MethodsLarge consanguineous families were ascertained from the Punjab province of Pakistan.
Akram, Javed, Ali, Shahbaz, Assir, Muhammad Zaman, Ayyagari, Radha, Gottsch, Alexander DH, Hejtmancik, J Fielding, Kabir, Firoz, Khan, Shaheen N, Naeem, Muhammad Asif, Riazuddin, S Amer, Riazuddin, Sheikh, Ullah, Inayat   +11 more
core   +5 more sources