Results 11 to 20 of about 15,997 (234)

Retinal Inflammation, Cell Death and Inherited Retinal Dystrophies [PDF]

International Journal of Molecular Sciences, 2021
Inherited retinal dystrophies (IRDs) are a group of retinal disorders that cause progressive and severe loss of vision because of retinal cell death, mainly photoreceptor cells. IRDs include retinitis pigmentosa (RP), the most common IRD. IRDs present a genetic and clinical heterogeneity that makes it difficult to achieve proper treatment.
Lorena Olivares-González, Sheyla Velasco, Isabel Campillo, Regina Rodrigo   +3 more
openaire   +7 more sources

Relative frequency of inherited retinal dystrophies in Brazil

Scientific Reports, 2018
Among the Brazilian population, the frequency rates of inherited retinal dystrophies and their causative genes are underreported. To increase the knowledge about these dystrophies in our population, we retrospectively studied the medical records of 1,246
Fabiana Louise Motta, Renan Paulo Martin, Rafael Filippelli-Silva, Mariana Vallim Salles, Juliana Maria Ferraz Sallum   +4 more
doaj   +2 more sources

Relative frequencies of inherited retinal dystrophies and optic neuropathies in Southern France: assessment of 21-year data management [PDF]

Ophthalmic Epidemiology, 2013
PURPOSE: Inherited retinal dystrophies (IRDs) and inherited optic neuropathies (IONs) are rare diseases defined by specific clinical and molecular features. The relative prevalence of these conditions was determined in Southern France.
A. Lacroux, A. Senechal, A.F. Roux, B. Arveiler, B. Bocquet, B. Wissinger, C. Baudoin, C. Blanchet, C. Delettre, C. Hamel, C. Zeitz, C.M. Dhaenens, D. Bonneau, G. Manes, H. Dollfus, I. Audo, I. Meunier, I. Perrault, J. Kaplan, J.A. Sahel, J.M. Rozet, J.P. Bonnefont, M. Claustres, M. Hebrard, M.O. Surget, P. Amati-Bonneau, P. Calvas, P. Reynier, S. Kohl, V. Marquette, V. Paquis-Flucklinger   +30 more
core   +4 more sources

CDHR1 mutations in retinal dystrophies [PDF]

Scientific Reports, 2017
We report ophthalmic and genetic findings in patients with autosomal recessive retinitis pigmentosa (RP), cone-rod dystrophy (CRD) or cone dystrophy (CD) harboring potential pathogenic variants in the CDHR1 gene.
Katarina Stingl, Anja K. Mayer, Pablo Llavona, Lejla Mulahasanovic, Günther Rudolph, Samuel G. Jacobson, Eberhart Zrenner, Susanne Kohl, Bernd Wissinger, Nicole Weisschuh   +9 more
doaj   +4 more sources

Retinal Structure inRPE65-Associated Retinal Dystrophy [PDF]

Investigative Opthalmology & Visual Science, 2020
RPE65-associated retinal dystrophy (RPE65-RD) is an early onset, progressive, severe retinal dystrophy. We sought to characterize the natural history of retinal degeneration in affected individuals.We performed cross-sectional and longitudinal quantitative and qualitative assessments of retinal architecture in RPE65-RD using spectral domain optical ...
Kumaran, Neruban, Georgiou, Michalis, Bainbridge, James W B, Bertelsen, Mette, Larsen, Michael, Blanco-Kelly, Fiona, Ayuso, Carmen, Tran, Hoai Viet, Munier, Francis L, Kalitzeos, Angelos, Michaelides, Michel   +10 more
openaire   +5 more sources

Genetic testing in retinal dystrophies

Oman Journal of Ophthalmology, 2011
Developments in genetics and technology are bringing with them incredible possibilities in the management and potential cure of patients with retinal dystrophy. In this editorial, we address the issue of genetic testing in retinal dystrophies. In the first section, we provide some background information about genetic testing.
Anuradha Ganesh, Rosanne B Keep
doaj   +3 more sources

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

Progression of phenotype in Leber's congenital amaurosis with a mutation at the LCA5 locus [PDF]

, 2003
BACKGROUND: Leber’s congenital amaurosis (LCA) accounts for 5% of inherited retinal disease and is usually inherited as an autosomal recessive trait. Genetic and clinical heterogeneity exist.
Inglehearn, C.F., Jafri, H., McKibbin, M.A., Mohamed, M.D., Raashed, Y., Topping, N.C   +5 more
core   +1 more source

Congenital muscular dystrophy: from muscle to brain. [PDF]

, 2016
Congenital muscular dystrophies (CMDs) are a wide group of muscular disorders that manifest with very early onset of muscular weakness, sometime associated to severe brain involvement.The histologic pattern of muscle anomalies is typical of dystrophic ...
Corsello G, Falsaperla R, Parano E, Pavone P, Praticò AD, Rizzo R, Ruggieri M, Vitaliti G   +7 more
core   +1 more source

Oxidative Stress as a Main Contributor of Retinal Degenerative Diseases

Antioxidants, 2022
Retinal degenerative diseases, including inherited retinal dystrophies (IRDs) and acquired multifactorial diseases, such as age-related macular degeneration (AMD), diabetic retinopathy (DR) or ganglion cell damage secondary to glaucoma or other ...
Isabel Pinilla, Victoria Maneu
doaj   +1 more source