Results 51 to 60 of about 7,465 (249)
A Novel Recessive RPGRIP1 Mutation Causing Leber Congenital Amaurosis
, 2016 Background: Leber congenital amaurosis is an early-onset childhood severe retinal dystrophy, of significant genetic heterogeneity. RPGRIP1 is ubiquitously expressed, but mutations in RPGRIP1 lead to a retina-restricted phenotype, such as Leber congenital
Abouzeid, Hana +5 more
core +1 more source
Neuroprotection, EarlyView.Abstract Prime editing, a novel clustered regularly interspaced short palindromic repeats (CRISPR)‐based technology, fuses a reverse transcriptase (RT) to an engineered CRISPR‐associated protein 9 (Cas9) and uses a prime editing guide RNA (pegRNA)‐encoded template.
Tianshan Ji +4 more
wiley +1 more source
Acta Ophthalmologica, EarlyView.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 +10 more
wiley +1 more source
Leber Congenital Amaurosis With Coats-Like Reaction and 3 Novel Sequence Variants: A Short Report
, 2020 Purpose: This report discusses a patient with Leber congenital amaurosis who presented with severe bilateral Coats-like reaction and 3 novel sequence variants in 2 different genes.
Santiesteban, Carlos E. Mendoza +5 more
core +1 more source
Acta Ophthalmologica, EarlyView.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 +6 more
wiley +1 more source
Prevention of Leber congenital amaurosis through preimplantation genetic diagnosis
, 2018 © 2018 American Association for Pediatric Ophthalmology and Strabismus Preimplantation genetic diagnosis can allow a family with a hereditary genetic mutation to conceive a disease-free child.
Fox, J. E. +7 more
core +1 more source
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
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
Cell Proliferation, Volume 59, Issue 6, June 2026.Neurological disorders are hard to treat. Stem cell‐derived neural organoids enable research, and their transplantation aids CNS therapy, with this article reviewing relevant advances, challenges and prospects. ABSTRACT Neurological disorders are often devastating and notoriously difficult to repair, creating an urgent need for novel research models ...
Yutong Wang +8 more
wiley +1 more source
A defective structural zipper in photoreceptors causes inherited blindness
PLoS Biology, 2022 Being able to see the beauty of this world is a wonderful thing unfortunately unavailable to people with inherited blindness. In this issue of PLOS Biology, Mercey and colleagues present optimized expansion microscopy for retinal tissue, which represents
Siebren Faber, Ronald Roepman
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