Results 71 to 80 of about 7,638 (169)

High Dose of LV-RPE65 Vector Restores a “Near Normal” ERG Response in Rpe65^−/− Mice and Rescues the Activity of Cone Photoreceptors in Rpe65^−/−/Gnat1a^−/− Mice

, 2013
(A) Scotopic ERG recorded at age 1 mo of a Rpe65−/− mouse treated at P5 with 180 ng of LV-RPE65 (left tracings) and of a Rpe65+/+ untreated mouse (WT, right tracings).
Alexis-Pierre Bemelmans (66149), Sylvain V Crippa (66151), Francis L Munier (66154), Andreas Wenzel (66155), Janis Lem (66153), Mathias W Seeliger (32419), Corinne Kostic (66150), William W Hauswirth (66152), Yvan Arsenijevic (49871)   +8 more
core   +1 more source

Reflections on emerging therapies for inherited retinal diseases following a community education event: A qualitative exploration

Optometry and Vision Science, Volume 103, Issue 7, July 2026.
ABSTRACT Purpose To explore the inherited retinal diseases (IRD) communities' attitudes and perspective toward emerging therapies—specifically gene therapy, cell therapy, and retinal prostheses—following a community education event. Methods At an in‐person half‐day IRD community education event, subject‐matter experts presented the scientific ...
Eden G. Robertson, Jorden Hua, Kate Hetherington, Michelle O’Hara‐Wright, Anai Gonzalez‐Cordero   +4 more
wiley   +1 more source

Structure of RPE65 minigene.

, 2014
The pCIneo minigenes of RPE65 gene were constructed to contain three exons (exon 11, 12, and 13) and flanking intronic sequences (intron 11 and 12) from wild or mutant type (c.1243+2T>A) of RPE65 gene.
Zhongshan Chen (657294), Yunbo Li (381615), Ming Yan (284631), Guoyan Mo (657292), Lijing Bu (442122), Qin Ding (657293), Yanping Song (657295), Guohua Yin (546831)   +7 more
core   +1 more source

Increased therapeutic window for the R91W mutant form of Rpe65 compared to Rpe65 null backgroud

, 2009
Purpose:Given the advances of gene therapy studies to cure RPE65-derived Leber Congenital Amaurosis (LCA) (clinical trials phase I) and the heterogeneity of the targeted patients both genetically and phenotypically, it is of prime importance to examine ...
Kostic, C., Arsenijevic, Y., Wanner, D., Crippa, S., Pignat, V., Samardzija, M., Tekaya, M., Wenzel, A., Bemelmans, A.P.   +8 more
core   +1 more source

Gene therapy regenerates protein expression in cone photoreceptors in Rpe65(R91W/R91W) mice.

PLoS ONE, 2011
Cone photoreceptors mediate visual acuity under daylight conditions, so loss of cone-mediated central vision of course dramatically affects the quality of life of patients suffering from retinal degeneration. Therefore, promoting cone survival has become
Corinne Kostic, Sylvain Vincent Crippa, Vérène Pignat, Alexis-Pierre Bemelmans, Marijana Samardzija, Christian Grimm, Andreas Wenzel, Yvan Arsenijevic   +7 more
doaj   +1 more source

Enhancing Understanding of the Visual Cycle by Applying CRISPR/Cas9 Gene Editing in Zebrafish

Frontiers in Cell and Developmental Biology, 2018
During the vertebrate visual cycle, all-trans-retinal is exported from photoreceptors to the adjacent RPE or Müller glia wherein 11-cis-retinal is regenerated.
Rebecca Ward, Husvinee Sundaramurthi, Husvinee Sundaramurthi, Husvinee Sundaramurthi, Valeria Di Giacomo, Breandán N. Kennedy   +5 more
doaj   +1 more source

Dual Knockout Models of the Spatially and Functionally Conserved rgra and rgrb Zebrafish Genes Reveal the Requirement of RGR for the Integrity of Cone‐Mediated Photopic Vision, the Photopic Visual Cycle and Bruch's Membrane Morphology

The FASEB Journal, Volume 40, Issue 10, 31 May 2026.
This study investigates the role of the vision gene RGR using novel dual knockout zebrafish models. The loss of rgra and rgrb results in zebrafish larvae having reduced visual function and altered retinoid profiles under light but not dark conditions. The OKR phenotype is enhanced under higher light intensities.
Grace Ruddin, Tess McCann, Joanna J. Kaylor, Michelle M. Fox, John D. Fehilly, Rebecca Ward, Adam Faulkner, Ailís L. Moran, Kieran Wynne, Roxana A. Radu, Michael G. Monaghan, Stephen D. Thorpe, Gabriel H. Travis, Breandán N. Kennedy   +13 more
wiley   +1 more source

Derivation of familial iPSC lines from three patients with retinitis pigmentosa carrying an autosomal dominant RPE65 mutation (NUIGi027-A, NUIGi028-A, NUIGi029-A)

Stem Cell Research, 2020
Retinitis Pigmentosa (RP) is an inherited disorder of retinal degeneration with progressive loss of rod and cone photoreceptors. RPE65 is a gene encoding the trans-cis isomerase which is essential for the classical visual cycle.
Yicheng Ding, Eva Carvalho, Cormac Murphy, Veronica McInerney, Janusz Krawczyk, Timothy O'Brien, Linda Howard, Li Cai, Sanbing Shen   +8 more
doaj   +1 more source

Carrier screening in the reproductive setting—Are there medical implications for the heterozygote?—A guide for clinicians

Pregnancy, Volume 2, Issue 3, May 2026.
Abstract Carrier screening for genetic conditions performed preconception or during pregnancy allows identification of fetal risk for inherited autosomal recessive and X‐linked conditions. The goal is to identify at‐risk patients/couples and offer them reproductive options such as preimplantation genetic diagnosis, prenatal testing, or targeted newborn
Emily B. Rosenfeld, Nicole Kasatkin, Bi Liu Yu, Milen Velinov, Justin S. Brandt, Elena Ashkinadze   +5 more
wiley   +1 more source

Late presentation of RPE65 retinopathy in three siblings

, 2020
Purpose: Gene therapy for RPE65 retinopathy has been recently approved. The purpose of this study was to assess retinal structure and function in 3 siblings presenting with late-stage RPE65 retinopathy and to assess the unmet need for such therapy in ...
Schatz, Patrik, Magliyah, Moustafa, Saifaldein, Amjad Ameen   +2 more
core   +1 more source