Results 71 to 80 of about 7,465 (249)

Dual phenotype: co-occurring Leber congenital amaurosis and familial exudative vitreoretinopathy: a case report

, 2022
To report the concurrent presentation and management of IQCB1-associated Leber Congenital Amaurosis and NDP-associated Familial Exudative Vitreoretinopathy (FEVR).
Robert A. Sisk (6658529), Brittany N. Simpson (14173958), Stefanie Benoit (14173961), Jared J. Ebert (14173955), Diana S. Brightman (13138482), Virginia Miraldi Utz (14173952)   +5 more
core   +1 more source

Thailand's Emerging Role in the Cell and Gene Therapy Revolution: A Review of Progress and Potential

Clinical and Translational Science, Volume 19, Issue 4, April 2026.
ABSTRACT This Perspective examines Thailand's role in cell and gene therapy, focusing on regulatory development and early clinical experience. These therapies are used in Thailand for β‐thalassemia, or blood cancer, together with the evolving ATMP regulatory framework and the ATMP Sandbox Project.
Vip Viprakasit, Warut Tulalamba, Thidarat Suksangpleng, Supachai Ekwattanakit   +3 more
wiley   +1 more source

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

Advances in CRISPR Base Editing: From Molecular Evolution to Therapeutic Applications in Genomic Medicine

Journal of Cellular and Molecular Medicine, Volume 30, Issue 8, April 2026.
ABSTRACT CRISPR‐Cas9 systems revolutionized gene editing, but inherent drawbacks, namely DNA double‐strand breaks (DSBs) and the difficulty of achieving precise repairs (due to low HDR efficiency), led researchers to invent new, more accurate gene editing tools.
Melike Aliciaslan, Ezgi Erbasan, Fulya Erendor, Salih Sanlioglu   +3 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

Ciliary Defects in Inherited Retinal Diseases

Advanced Genetics, Volume 7, Issue 1, March 2026.
The photoreceptor cilium is a specialized sensory organelle essential for vision. This review systematically summarizes the structural and functional defects of the cilium that lead to inherited retinal diseases (IRDs). It highlights key pathogenic genes, elucidates molecular mechanisms of degeneration, and evaluates emerging therapeutic strategies ...
Guizhi Guo, Lin Li, Jun Zhou, Jie Ran
wiley   +1 more source

Urothelial Carcinoma of the Bladder Following BK Virus Infection in a Pediatric Kidney Transplant Recipient

Pediatric Transplantation, Volume 30, Issue 3, March 2026.
ABSTRACT Background Urothelial bladder carcinoma is extremely rare in children and its association with BK virus infection remains unclear. Methods We describe the case of an 11‐year‐old girl who developed a urothelial carcinoma of the bladder four years after receiving her first kidney transplant.
Martina Ichas, Lise Allard, Luke Harper, Mokrane Yacoub, Iona Madden, Cécile Vérité, Astrid Godron‐Dubrasquet, Jérôme Harambat   +7 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  

Nonpenetrance of the Most Frequent Autosomal Recessive Leber Congenital Amaurosis Mutation in NMNAT1

, 2014
Item does not contain fulltextIMPORTANCE: The NMNAT1 gene was recently found to be mutated in a subset of patients with Leber congenital amaurosis and macular atrophy.
Siemiatkowska, A.M., Riemslag, F.C., Collin, R.W.J., Vries, B. de, Cremers, F.P., Schuurs-Hoeijmakers, J.H.M., Boonstra, F.N., Bosch, D.G.M., Hollander, A.I. den, Ruiter, M.   +9 more
core   +1 more source

Test–retest variability of the full‐field stimulus test in patients with retinitis pigmentosa: REPEAT Study Report No. 4

Acta Ophthalmologica, Volume 104, Issue 1, Page 89-97, February 2026.
Abstract Purpose To evaluate test–retest variability (TRV) of the full‐field stimulus test (FST) in patients with retinitis pigmentosa (RP) and poor best‐corrected visual acuity (BCVA; ≤20/50 Snellen; ≥0.40 logMAR), and to assess the reliability of FST as a clinical endpoint in future RP trials.
J. S. Karuntu, S. B. A. E. Tulp, C. J. F. Boon   +2 more
wiley   +1 more source