Results 31 to 40 of about 5,980 (178)

Wavelength of light and photophobia in inherited retinal dystrophy [PDF]

Scientific Reports, 2020
AbstractInherited retinal dystrophy (IRD) patients often experience photophobia. However, its mechanism has not been elucidated. This study aimed to investigate the main wavelength of light causing photophobia in IRD and difference among patients with different phenotypes.
Otsuka, Yuki, Oishi, Akio, Miyata, Manabu, Oishi, Maho, Hasegawa, Tomoko, Numa, Shogo, Ikeda, Hanako Ohashi, Tsujikawa, Akitaka   +7 more
openaire   +2 more sources

Light-induced charge generation in polymeric nanoparticles restores vision in advanced-stage retinitis pigmentosa rats

Nature Communications, 2022
Retinal dystrophies such as Retinitis pigmentosa are among the most prevalent causes of inherited incurable legal blindness. Here the authors demonstrate that conjugated polymer nanoparticles reinstate visual functions in aged rats with fully degenerated
S. Francia, D. Shmal, S. Di Marco, G. Chiaravalli, J. F. Maya-Vetencourt, G. Mantero, C. Michetti, S. Cupini, G. Manfredi, M. L. DiFrancesco, A. Rocchi, S. Perotto, M. Attanasio, R. Sacco, S. Bisti, M. Mete, G. Pertile, G. Lanzani, E. Colombo, F. Benfenati   +19 more
doaj   +1 more source

Reviewing the Role of Ultra-Widefield Imaging in Inherited Retinal Dystrophies

Ophthalmology and Therapy, 2020
Inherited retinal dystrophies (IRD) are a heterogeneous group of rare chronic disorders caused by genetically determined degeneration of photoreceptors and retinal pigment epithelium cells.
Maria Vittoria Cicinelli, Alessandro Marchese, Alessandro Bordato, Maria Pia Manitto, Francesco Bandello, Maurizio Battaglia Parodi   +5 more
doaj   +1 more source

Gene therapy for inherited retinal dystrophies [PDF]

, 2009
The inherited retinal dystrophies comprise a large number of disorders characterized by a slow and progressive retinal degeneration. They are the result of mutations in genes that express in either the photoreceptor cells or the retinal pigment ...
Côco, Monique [UNIFESP], Han, Sang Won [UNIFESP], Sallum, Juliana Maria Ferraz   +2 more
core   +1 more source

Application of Whole Exome Sequencing in Six Families with an Initial Diagnosis of Autosomal Dominant Retinitis Pigmentosa: Lessons Learned. [PDF]

PLoS ONE, 2015
This study aimed to identify the genetics underlying dominant forms of inherited retinal dystrophies using whole exome sequencing (WES) in six families extensively screened for known mutations or genes.
Berta Almoguera, Jiankang Li, Patricia Fernandez-San Jose, Yichuan Liu, Michael March, Renata Pellegrino, Ryan Golhar, Marta Corton, Fiona Blanco-Kelly, Maria Isabel López-Molina, Blanca García-Sandoval, Yiran Guo, Lifeng Tian, Xuanzhu Liu, Liping Guan, Jianguo Zhang, Brendan Keating, Xun Xu, Hakon Hakonarson, Carmen Ayuso   +19 more
doaj   +1 more source

Bilateral Retinitis Pigmentosa with Bilateral Microphakia: An Uncommon Association

Delhi Journal of Ophthalmology, 2022
A series of progressive inherited retinal dystrophies known as retinitis pigmentosa include degeneration of rods followed by the loss of cone photoreceptors.
Anupriya Aggarwal, Rajwinder Kaur, Balbir Khan, Priyanka Dahiya   +3 more
doaj   +1 more source

Inherited Macular Dystrophies and Differential Diagnostics

, 2012
The inherited macular dystrophies are characterized by different grade central visual loss and different character macula atrophy, because of retinal pigment epithelium lesion. The cause of photoreceptors degeneration is still not known. In this article,
Virginija Ašmonienė, Rasa Liutkevičienė, Arvydas Gelžinis, Vaiva Lesauskaitė, Vytautas Jašinskas, Dalia Žaliūnienė   +5 more
core   +2 more sources

Gene therapy restores vision in rd1 mice after removal of a confounding mutation in Gpr179 [PDF]

, 2015
The rd1 mouse with a mutation in the Pde6b gene was the first strain of mice identified with a retinal degeneration. However, AAV-mediated gene supplementation of rd1 mice only results in structural preservation of photoreceptors, and restoration of the ...
Bainbridge, James W.B., Rizzi, M, Nishiguchi, KM, James W. B. Bainbridge, Kate Powell, Joana Ribeiro, Duran, Y, Ribeiro, J, Powell, K, Luhmann, UF, Azam, Selina A., Yanai Duran, Rizzi, Matteo, Livia S. Carvalho, Smith, Alexander J., Holthaus, Sophia Martha Kleine, Robin R. Ali, Ulrich F. O. Luhmann, Carvalho, Livia S., Er J. Smith, Koji M. Nishiguchi, Powell, Kate, Matteo Rizzi, Selina A. Azam, Carvalho, LS, Ali, RR, Holthaus, SM, Sophia-martha Kleine Holthaus, Bainbridge, JW, Ali, Robin R.; id_orcid, Luhmann, Ulrich F.O., Duran, Yanai, Azam, SA, Ribeiro, Joana, Smith, AJ, Nishiguchi, Koji M.   +35 more
core   +1 more source

Effects of A2E-Induced Oxidative Stress on Retinal Epithelial Cells: New Insights on Differential Gene Response and Retinal Dystrophies

Antioxidants, 2020
Oxidative stress represents one of the principal inductors of lifestyle-related and genetic diseases. Among them, inherited retinal dystrophies, such as age-related macular degeneration and retinitis pigmentosa, are well known to be susceptible to ...
Luigi Donato, Rosalia D’Angelo, Simona Alibrandi, Carmela Rinaldi, Antonina Sidoti, Concetta Scimone   +5 more
doaj   +1 more source

Additional file 2 of Clinical and genetic spectrums of 413 North African families with inherited retinal dystrophies and optic neuropathies

, 2022
Additional file 2: Phenotypic and mutational spectrum of 194 North African families with non-syndromic inherited retinal ...
Ghita Amalou (12538812), Aymane Bouzidi (12538809), Hicham Charoute (3208407), Majida Charif (326461), Mostafa Kandil (3208404), Guy Lenaers (10199487), Abdelhamid Barakat (326464)   +6 more
core   +1 more source