Results 81 to 90 of about 5,980 (178)

Guiding Lights in Genome Editing for Inherited Retinal Disorders: Implications for Gene and Cell Therapy

Neural Plasticity, 2018
Inherited retinal dystrophies (IRDs) are a leading cause of visual impairment in the developing world. These conditions present an irreversible dysfunction or loss of neural retinal cells, which significantly impacts quality of life.
Carla Sanjurjo-Soriano, Vasiliki Kalatzis   +1 more
doaj   +1 more source

Expanding horizons of intravitreal anti-vascular endothelial growth factor therapy in retinal diseases

Indian Journal of Ophthalmology
Vascular endothelial growth factor (VEGF) plays a central role in the pathogenesis of retinal and choroidal neovascularization, as well as macular edema (ME), in retinal disorders such as diabetic retinopathy, retinal vein occlusion (RVO), and age ...
Shalini Singh, Urvashi Kala, Arjun Bamel, Manisha Agarwal   +3 more
doaj   +1 more source

IROme, a New High-Throughput Molecular Tool for the Diagnosis of Inherited Retinal Dystrophies

, 2013
The molecular diagnosis of retinal dystrophies is difficult because of the very important number of genes implicated and is rarely helped by genotype-phenotype correlations.
Schorderet, Daniel F., Favez, T., Schorderet, Daniel F, Escher, P., Favez, Tatiana, Tiab, Leila, Iouranova, A., Tiab, L., Escher, Pascal, Iouranova, Alexandra, Schorderet, D.F.   +10 more
core   +1 more source

Epigenetic regulation of gene expression in rare inherited retinal disorders

Frontiers in Genetics
The retina is a highly specialized neural tissue characterized by extreme cellular differentiation, high metabolic demand, and lifelong exposure to environmental stressors.
Feliciana Menna, Laura De Luca, Alessandro Meduri, Antonio Baldascino, Stefano Lupo, Enzo Maria Vingolo   +5 more
doaj   +1 more source

The phenotypic variability of HK1-associated retinal dystrophy

Scientific Reports, 2017
Inherited retinal dystrophies (IRDs) are a clinically and genetically heterogeneous group of Mendelian disorders primarily affecting photoreceptor cells.
Zhisheng Yuan, Baiyu Li, Mingchu Xu, Emmanuel Y. Chang, Huajin Li, Lizhu Yang, Shijing Wu, Zachry T. Soens, Yumei Li, Lee-Jun C. Wong, Richard A. Lewis, Ruifang Sui, Rui Chen   +12 more
doaj   +1 more source

Fundus Autofluorescence in Inherited Retinal Disease: A Review

Cells
Fundus autofluorescence (FAF) is a non-invasive retinal imaging technique that helps visualize naturally occurring fluorophores, such as lipofuscin, and provides valuable insight into retinal diseases—particularly inherited retinal diseases (IRDs).
Jin Kyun Oh, Omar Moussa, Byron L. Lam, Jesse D. Sengillo   +3 more
doaj   +1 more source

Functional analysis of A 5' untranslated variant in rhodopsin : implications for the retinitis pigmentosa phenotype

, 2011
Retinitis Pigmentosa (RP) is a group of heterogeneous retinal degenerative diseases that predominantly affect rod photoreceptor cells. Symptoms include night blindness and gradual peripheral vision loss, which progresses to a complete loss of vision ...
Akinyi, Maureen Veronica
core  

Current Treatment Options for Patients with Inherited Retinal Dystrophies and Ongoing Gene Therapy Clinical Trials

Inherited retinal dystrophies affect a great majority of the population, causing millions of people to suffer from these diseases. This systematic review seeks to evaluate current treatment options for patients with leber's congenital amaurosis and ...
Henderson, Jaclyn N.
core  

sj-xlsx-1-ejo-10.1177_11206721241236214 - Supplemental material for Inherited retinal dystrophies and orphan designations in the European Union

Supplemental material, sj-xlsx-1-ejo-10.1177_11206721241236214 for Inherited retinal dystrophies and orphan designations in the European Union by Jane Moseley, Tim Leest, Kristina Larsson, Armando Magrelli and Violeta Stoyanova-Beninska in European ...
Jane Moseley (18181601), Tim Leest (18181604), Violeta Stoyanova-Beninska (6020651), Kristina Larsson (7973873), Armando Magrelli (11855813)   +4 more
core   +1 more source

Supramolecular complexes of GCAP1: implications for inherited retinal dystrophies [PDF]

Guanylate Cyclase Activating Protein 1 (GCAP1) is a calcium sensor that regulates the enzymatic activity of retinal Guanylate Cyclase 1 (GC1) in photoreceptors in a Ca2+/Mg2+ dependent manner.
Marino, Valerio, Biasi, Amedeo, Dal Cortivo, Giuditta, Dell'Orco, Daniele   +3 more
core   +1 more source