Results 11 to 20 of about 5,980 (178)

Spectrum of variants associated with inherited retinal dystrophies in Northeast Mexico [PDF]

BMC Ophthalmology
Background Inherited retinal dystrophies are hereditary diseases which have in common the progressive degeneration of photoreceptors. They are a group of diseases with clinical, genetic, and allelic heterogeneity.
Rocio A. Villafuerte-de la Cruz, Lucas A. Garza-Garza, Manuel Garza-Leon, Cesar Rodriguez-De la Torre, Cinthya Parra-Bernal, Ilse Vazquez-Camas, David Ramos-Gonzalez, Andrea Rangel-Padilla, Angelina Espino Barros-Palau, Jose Nava-García, Javier Castillo-Velazquez, Erick Castillo-De Leon, Agustin Del Valle-Penella, Jorge E. Valdez-Garcia, Augusto Rojas-Martinez   +14 more
doaj   +3 more sources

Cellular and Molecular Mechanisms of Pathogenesis Underlying Inherited Retinal Dystrophies [PDF]

Biomolecules, 2023
Inherited retinal dystrophies (IRDs) are congenital retinal degenerative diseases that have various inheritance patterns, including dominant, recessive, X-linked, and mitochondrial.
Andrew Manley, Bahar I. Meshkat, Monica M. Jablonski, T.J. Hollingsworth   +3 more
doaj   +3 more sources

The landscape of basic gene therapy approaches in inherited retinal dystrophies [PDF]

Frontiers in Ophthalmology, 2023
The study of gene therapies has been of particular interest in recent decades due to their promising potential to slow or even rescue the degeneration of the retina in inherited retinal dystrophies (IRDs).
Jianhua Xia, Lei Gu, Qing Pan
doaj   +4 more sources

CRB1 mutations in inherited retinal dystrophies [PDF]

Human Mutation, 2011
Mutations in the CRB1 gene are associated with variable phenotypes of severe retinal dystrophies, ranging from leber congenital amaurosis (LCA) to rod-cone dystrophy, also called retinitis pigmentosa (RP). Moreover, retinal dystrophies resulting from CRB1 mutations may be accompanied by specific fundus features: preservation of the para-arteriolar ...
Bujakowska, Kinga, Audo, Isabelle, Mohand-Saïd, Saddek, Lancelot, Marie-Elise, Antonio, Aline, Germain, Aurore, Léveillard, Thierry, Letexier, Mélanie, Saraiva, Jean-Paul, Lonjou, Christine, Carpentier, Wassila, Sahel, José-Alain, Bhattacharya, Shomi, Zeitz, Christina   +13 more
core   +6 more sources

CRB1 mutation spectrum in inherited retinal dystrophies

Human Mutation, 2004
Mutations in the Crumbs homologue 1 (CRB1) gene have been reported in patients with a variety of autosomal recessive retinal dystrophies, including retinitis pigmentosa (RP) with preserved paraarteriolar retinal pigment epithelium (PPRPE), RP with Coats-like exudative vasculopathy, early onset RP without PPRPE, and Leber congenital amaurosis (LCA).
den Hollander, Anneke I., Davis, Jason, van der Velde-Visser, Saskia D., Zonneveld, Marijke N., Pierrottet, Chiara O., Koenekoop, Robert K., Kellner, Ulrich, van den Born, L. Ingeborgh, Heckenlively, John R., Hoyng, Carel B., Handford, Penny A., Roepman, Ronald, Cremers, Frans P.M.   +12 more
openaire   +5 more sources

Emerging Drug Therapies for Inherited Retinal Dystrophies

, 2019
Worldwide, 1 in 2000 people suffer from inherited retinal dystrophies (IRD). Individuals with IRD typically present with progressive vision loss that ultimately results in blindness. Unfortunately, effective treatment options are not widely available due to the genetic and clinical heterogeneity of these diseases.
Husvinee, Sundaramurthi, Ailís, Moran, Andrea Cerquone, Perpetuini, Alison, Reynolds, Breandán, Kennedy   +4 more
openaire   +4 more sources

Long-read Sequencing in Inherited Retinal Dystrophies: A Systematic Review [PDF]

Ophthalmology Science
Topic: Inherited retinal dystrophies (IRDs) encompass a group of phenotypically and genetically heterogeneous disorders leading to progressive visual impairment.
Mariam Ibrahim, MSc, Alain Chebly, PhD, Said El Shamieh, PhD   +2 more
doaj   +2 more sources

Novel Therapies for Inherited Retinal Dystrophies [PDF]

Journal of Clinical Medicine
With the approval of the first retinal gene therapy, voretigene neparvovec [...]
Kay CN.
openaire   +3 more sources

Zebrafish models of inherited retinal dystrophies

Journal of Translational Genetics and Genomics, 2022
Inherited retinal degenerations (IRDs) cause permanent vision impairment or vision loss due to the death of rod and cone photoreceptors. Animal models of IRDs have been instrumental in providing knowledge of the pathological mechanisms that cause photoreceptor death and in developing successful approaches that could slow or prevent vision loss ...
Perkins, Brian D.
openaire   +4 more sources

Single-Cell Transcriptomics in Inherited Retinal Dystrophies: Current Findings and Emerging Perspectives. [PDF]

Genes (Basel)
Inherited retinal dystrophies (IRDs) represent a diverse group of disorders caused by mutations in genes essential for retinal function and maintenance.
Nguyen L, Vallejos CA, Mill P, Megaw R.
europepmc   +2 more sources