Results 11 to 20 of about 9,124 (223)

Relative frequency of inherited retinal dystrophies in Brazil [PDF]

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   +5 more sources

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

INHERITED RETINAL DYSTROPHY IN THE RAT [PDF]

The Journal of Cell Biology, 1962
Retinal dystrophies, known in man, dog, mouse, and rat, involve progressive loss of photoreceptor cells with onset during or soon after the developmental period. Functional (electroretinogram), chemical (rhodopsin analyses) and morphological (light and electron microscopy) data obtained in the rat indicated two main processes: (a) overproduction of ...
J E, DOWLING, R L, SIDMAN
openaire   +4 more sources

Updating the Genetic Landscape of Inherited Retinal Dystrophies [PDF]

Frontiers in Cell and Developmental Biology, 2021
Inherited retinal dystrophies (IRD) are a group of diseases characterized by the loss or dysfunction of photoreceptors and a high genetic and clinical heterogeneity.
Belén García Bohórquez, Belén García Bohórquez, Elena Aller, Elena Aller, Elena Aller, Ana Rodríguez Muñoz, Ana Rodríguez Muñoz, Teresa Jaijo, Teresa Jaijo, Teresa Jaijo, Gema García García, Gema García García, José M. Millán, José M. Millán   +13 more
doaj   +5 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

Management and treatment of inherited retinal dystrophies

Taiwan Journal of Ophthalmology, 2021
Sarah R Levi, Laura A Jenny, Stephen H Tsang   +2 more
doaj   +3 more sources

Development of refractive errors - what can we learn from inherited retinal dystrophies? [PDF]

American Journal of Ophthalmology, 2017
PURPOSE: It is unknown which retinal cells are involved in the retina-to-sclera signaling cascade causing myopia. As inherited retinal dystrophies (IRD) are characterized by dysfunction of a single retinal cell type and have a high risk of refractive ...
Born, L.I. (Ingeborgh) van den, Buitendijk, G.H.S. (Gabrielle), Hendriks, M. (Michelle), Hofman, A. (Albert), Kamermans, M. (Maarten), Klaver, C.C.W. (Caroline), Meester-Smoor, M.A. (Magda), Polling, J.R. (Jan Roelof), Verhoeven, V.J.M. (Virginie)   +8 more
core   +3 more sources

Gene discovery and prevalence in inherited retinal dystrophies

Comptes Rendus. Biologies, 2014
Inherited retinal dystrophies are Mendelian neurodegenerative conditions classified as pigmentary retinopathies, macular dystrophies and others. Over a 21-year period, from 1990 to 2011, we have screened in Montpellier 107 genes in 609 families and have identified a causal mutation in 68.5% of them.
openaire   +4 more sources

Novel Therapies for Inherited Retinal Dystrophies. [PDF]

J Clin Med
With the approval of the first retinal gene therapy, voretigene neparvovec [...]
Kay CN.
europepmc   +3 more sources

Efficient correction of ABCA4 variants by CRISPR-Cas9 in hiPSCs derived from Stargardt disease patients

Molecular Therapy: Nucleic Acids, 2023
Inherited retinal dystrophies comprise a broad group of genetic eye diseases without effective treatment. Among them, Stargardt disease is the second most prevalent pathology.
Laura Siles, Sheila Ruiz-Nogales, Arnau Navinés-Ferrer, Pilar Méndez-Vendrell, Esther Pomares   +4 more
doaj   +1 more source