Results 61 to 70 of about 266,209 (210)

Generation of two iPSC lines (UGENTi003 and UGENTi004) from patients with intermediate rod-cone dystrophy carrying the c.[-123C>T;701G>A];[806_810del] variants in the RDH12 gene

Stem Cell Research
Biallelic variants in RDH12 are associated with early-onset retinal dystrophy and Leber congenital amaurosis. RDH12 plays a role in the phototransduction cascade by converting all-trans retinal into all-trans retinol in the photoreceptor inner segments ...
M. Bouckaert, F. Van Den Broeck, M. Ghazvini, A. Dueñas Rey, H. Lenaerts, A. Dheedene, K. Claes, E. De Baere, B.P. Leroy, J. De Zaeytijd, F. Coppieters   +10 more
doaj   +1 more source

Minocycline and bone marrow–derived mononuclear cells as potential therapeutics for hereditary retinal degenerations

Acta Ophthalmologica, Volume 104, Issue 6, Page e671-e685, September 2026.
Abstract Purpose To assess in Royal College of Surgeons (RCS) rats if the combination of two previously documented neuroprotective strategies: minocycline administration and bone marrow–derived mononuclear cells (BM‐MNCs) intravitreal transplantation, offers enhanced neuroprotection compared with each treatment alone.
Alba Videla‐Ristol, Ana Martínez‐Vacas, David García‐Bernal, Manuel Vidal‐Sanz, María Paz Villegas‐Pérez, Diego García‐Ayuso, Johnny Di Pierdomenico   +6 more
wiley   +1 more source

Gene therapy in ophthalmology

Oman Journal of Ophthalmology, 2009
It has been more than a year since ophthalmologists and scientists under Dr. Robin Ali′s team at the Moorsfield Eye Hospital and the Institute of Ophthalmology, University College London, successfully treated patients with a severely blinding disease ...
Satagopan Uthra, Govindasamy Kumaramanickavel   +1 more
doaj   +1 more source

CRB1 ‐Associated Inherited Retinal Dystrophies: Prospective Natural History Study With 4 Years of Follow‐Up

Clinical &Experimental Ophthalmology, Volume 54, Issue 7, Page 917-931, September/October 2026.
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, Xuan‐Thanh‐An Nguyen, Mays Talib, Mary J. van Schooneveld, Jan Wijnholds, Maria M. van Genderen, Jos Twisk, Nicoline E. Schalij‐Delfos, Caroline C. W. Klaver, Ralph J. Florijn, Jacoline B. ten Brink, Magda A. Smoor, L. Ingeborgh van den Born, Carel B. Hoyng, Alberta A. H. J. Thiadens, Camiel J. F. Boon   +15 more
wiley   +1 more source

Myelination of the optic radiation in Leber congenital amaurosis.

, 1992
We have studied the myelination of the visual pathway by magnetic resonance imaging in seven children (aged 5 months to 16 years) with Leber congenital amaurosis.
Martin E, Boltshauser E, Steinlin M, Schenker K   +3 more
core   +1 more source

Anion‐Exchange Membrane Chromatography for the Separation of Empty and Full Adeno‐Associated Viral Capsids

Biotechnology Journal, Volume 21, Issue 8, August 2026.
Graphical Abstract and Lay Summary The anion‐exchange membrane elution chromatography for the separation of empty and full AAVs is explored and optimized. The role played by important parameters like flowrate, gradient slope, membrane loading, and feed residence time is studied in detail.
Luca Ossi, Samuele Delfino, Helena Marie, Michael Schulte, Mattia Sponchioni   +4 more
wiley   +1 more source

Gene therapy for Leber congenital amaurosis [PDF]

, 2018
Introduction: Leber congenital amaurosis (LCA) is a group of recessively inherited, early infantile-onset, severe rod-cone dystrophies that can result from defects in at least 25 genes, including RPE65, CEP290, RDH12, AIPL1 and GUCY2D. The possibility of
Kumaran, N, Michaelides, M, Bainbridge, J, Ali, R, Smith, AJ   +4 more
core   +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  

Identification and functional validation of a novel disease‐causing variant in the noncoding region of NYX

Acta Ophthalmologica, Volume 104, Issue 5, Page e555-e564, August 2026.
Abstract Purpose Inherited retinal diseases (IRDs) are a clinically and genetically heterogeneous group of disorders, with ~30% of cases remaining genetically unsolved. Complete congenital stationary night blindness (cCSNB) is a subtype of IRD, usually associated with reduced visual acuity, nystagmus and high myopia.
Filip Spanic, Christelle Michiels, Julien Navarro, Aline Antonio, Christel Condroyer, Camille Andrieu, Billy Gipsy, Sylvie Berthémy‐Pellet, Mathilde Gallice, Isabelle Audo, Christina Zeitz   +10 more
wiley   +1 more source

Delivery Systems for Therapeutic Genome Editing: Challenges, Innovations, and Future Perspectives

MedComm, Volume 7, Issue 7, July 2026.
Schematic illustration of four emerging CRISPR–Cas delivery platforms defined by distinct design principles and structural features: virus‐mimicking nanosystems (e.g., VLPs), cell‐derived extracellular vesicles, cell‐penetrating peptides, and stimuli‐responsive scaffolds. These platforms enable spatiotemporally controlled delivery of RNPs, mRNA, or DNA
Meijia Yang, Yiqiong Song, Ziyang Wang, Ke Chao, Lifeng Li, Xu Zhang, Xiaoran Duan, Chenglong Yu, Ruyue Xue, Jie Zhao   +9 more
wiley   +1 more source