Results 51 to 60 of about 7,638 (169)
PNA and GNAT2 Labelling Increase after LV-RPE65 Treatment at P5 of Rpe65−/− Mice
, 2013 (A and B) PNA linked to TRITC labels cone outer segments in red in a LV-RPE65-treated eye (A). (B) Merged picture representing RPE65 (green), PNA labelling (red), and cell nuclei (blue) in the same section used in (A).
Alexis-Pierre Bemelmans (66149) +8 more
core +1 more source
Clinical Ophthalmology, 2021 Tomas S Aleman,1– 3 Alexander J Miller,4 Katherine H Maguire,1,2 Elena M Aleman,2 Leona W Serrano,1,2 Keli B O’Connor,1,2 Emma C Bedoukian,5 Bart P Leroy,3,6– 8 Albert M Maguire,1– 3 Jean Bennett1,2 1Scheie Eye Institute at the ...
Aleman TS +9 more
doaj
Exploring fundus‐controlled mesopic and scotopic perimetry in inherited retinal disease
Acta Ophthalmologica, EarlyView.Abstract Purpose Microperimetry is increasingly used as an outcome measure in clinical trials for retinal disease. This study compares mesopic and scotopic microperimetry in a heterogeneous cohort of patients with inherited retinal disease to assess their suitability as clinical trial outcome measures and to determine the most appropriate testing ...
Laura J. Taylor +4 more
wiley +1 more source
Voretigene Neparvovec in Retinal Diseases: A Review of the Current Clinical Evidence
Clinical Ophthalmology, 2020 Jie Gao,1 Rehan M Hussain,2 Christina Y Weng1 1Department of Ophthalmology, Baylor College of Medicine, Houston, TX, USA; 2Retina Associates, Elmhurst, IL, USACorrespondence: Christina Y WengBaylor College of Medicine, Alkek Eye Center, 1977 Butler Blvd,
Gao J, Hussain RM, Weng CY
doaj
Clinical &Experimental Ophthalmology, EarlyView.ABSTRACT Background The lack of validated and sensitive clinical endpoints remains a major challenge in the design of gene therapy trials for inherited retinal dystrophies (IRDs). This prospective longitudinal cohort study describes the natural disease progression of IRDs caused by pathogenic mutations in the Crumbs homologue 1 (CRB1) gene, and ...
Jessica S. Karuntu +15 more
wiley +1 more source
Non-coding RNA Research, 2019 A recent study published to screen RPE65 in 187 families with Leber Congenital Amaurosis (LCA) by Zilin Zhong in 2019. There are seven novel variants were identified in RPE65, which was associated with LCA, but among only five were missense mutations [(c.
Zainularifeen Abduljaleel
doaj +1 more source
Orphanet Journal of Rare Diseases, 2020 Background RPE65-associated LCA (RPE65-LCA) is an inherited retinal degeneration caused by the mutations of RPE65 gene and gene therapy has been developed to be a promising treatment.
Xue Wang +4 more
doaj +1 more source
Techniques for subretinal injections in animals
Veterinary Ophthalmology, Volume 28, Issue 2, Page 506-518, March 2025.Abstract Subretinal injections are not commonly performed during clinical treatment of animals but are frequently used in laboratory animal models to assess therapeutic efficacy and safety of gene and cell therapy products. Veterinary ophthalmologists are often employed to perform the injections in the laboratory animal setting, due to knowledge of ...
Ryan F. Boyd, Simon M. Petersen‐Jones
wiley +1 more source
Impact of Retinal Disease-Associated RPE65 Mutations on Retinoid Isomerization
, 2016 Pathogenic mutations in the RPE65 gene are associated with a spectrum of congenital blinding diseases in humans. We evaluated changes in the promoter region, coding regions, and exon/intron junctions of the RPE65 gene by direct sequencing of DNA from 36 ...
Philip D. Kiser (2419078) +6 more
core +1 more source
PLoS ONE, 2016 Targeted gene knockout mouse models have helped to identify roles of autophagy in many tissues. Here, we investigated the retinal pigment epithelium (RPE) of Atg7f/f Tyr-Cre mice (on a C57BL/6 background), in which Cre recombinase is expressed under the ...
Supawadee Sukseree +12 more
doaj +1 more source