Results 121 to 130 of about 10,766 (232)

Foveal Sparing in Central Retinal Dystrophies

, 2019
Purpose: To describe foveal sparing (FS) in central retinal dystrophies (RD). Methods: Participants for this retrospective study were identified from the retinal dystrophy database of the Department of Ophthalmology at Radboud University Medical Center ...
Cremers, Frans P. M., Klevering, B. Jeroen, Fleckenstein, Monika, Boon, Camiel J. F., Holz, Frank G., Hoyng, Carel B., Valkenburg, Dyon, Bax, Nathalie M., Lindner, Moritz, Lambertus, Stanley   +9 more
core   +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

Using iPSC-derived retinal organoids to model retinal dystrophies

, 2020
International audienceThe advent of induced pluripotent stem cell (iPSC) technology has revolutionised biomedical research. The self-renewal capacity and multi-lineage differentiation potential of these cells allows the generation of iPSC-derived human ...
Kalatzis, Vasiliki
core  

Common ABCA4 mutations in South Africans: frequencies, pathogenicity and genotype-phenotype correlations

, 2010
Stargardt disease (STGD), a juvenile-onset form of macular dystrophy resulting in a severe reduction of central vision, may be inherited in either an autosomal recessive or autosomal dominant manner.
Nossek, C
core  

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

Gene therapy on inherited retinal dystrophies: an update. [PDF]

, 2018
[EN] Inherited retinal dystrophies (IRDs) are a heterogeneous group of disorders characterized by mutations in one of more than 290 identified genes and loci (https://sph.uth.edu/retnet/disease.htm), resulting in the dysfunction or death of ...
Crespo Cruz, Marina Izaskun
core  

Autosomal-dominant macular dystrophy linked to a chromosome 17 tandem duplication

JCI Insight
Hereditary macular dystrophies (HMDs) are a genetically diverse group of disorders that cause central vision loss due to photoreceptor and retinal pigment epithelium (RPE) damage.
Rabiat Adele, Rowaida Hussein, Erika Tavares, Kashif Ahmed, Matteo Di Scipio, Jason Charish, Minggao Liang, Simon Monis, Anupreet Tumber, Xiaoyan Chen, Tara A. Paton, Nicole M. Roslin, Christabel Eileen, Evgueni Ivakine, Nishanth E. Sunny, Michael D. Wilson, Eric Campos, Raju V.S. Rajala, Jason T. Maynes, Philippe P. Monnier, Andrew D. Paterson, Elise Héon, Ajoy Vincent   +22 more
doaj   +1 more source

Prevalence and phenotypes/genotypes of CRB1 retinal dystrophies

, 2019
International audiencePurpose : Mutations in CRB1 are classically associated with Leber congenital amaurosis (LCA). A macular phenotype has been recently identified.
Gardes, Gabriel, Kaplan, Josseline, Rozet, Jean-Michel, Meunier, Isabelle, de Baere, Elfride, Hamroun, Dalil, Leroy, Bart, P, Roux, Anne-Françoise, Manes, Gaël, Bocquet, Béatrice, Kalatzis, Vasiliki, Dhaenens, Claire-Marie, Perrault, Isabelle   +12 more
core  

Publication Only

HemaSphere, Volume 10, Issue S1, June 2026.
wiley   +1 more source

Exosome-based therapeutics: emerging extracellular vesicle platforms for targeted delivery in inherited retinal dystrophies and beyond. [PDF]

Ann Med Surg (Lond)
Khan SA, Ali T, Hameed A, Tahir A, Qamar MA.   +4 more
europepmc   +1 more source