Results 31 to 40 of about 29,682 (236)
Diagnostics, 2023 Background: Retinal dystrophies related to damaging variants in the cadherin-related family member 1 (CDHR1) gene are rare and phenotypically heterogeneous.
Andrea Cusumano +7 more
doaj +1 more source
INHERITED RETINAL DYSTROPHY IN THE RAT [PDF]
The Journal of Cell Biology, 1962 Retinal dystrophies, known in man, dog, mouse, and rat, involve progressive loss of photoreceptor cells with onset during or soon after the developmental period. Functional (electroretinogram), chemical (rhodopsin analyses) and morphological (light and electron microscopy) data obtained in the rat indicated two main processes: (a) overproduction of ...
J E, DOWLING, R L, SIDMAN
openaire +2 more sources
Retinal Dystrophy Associated with Homozygous Variants in NRL. [PDF]
Genes (Basel)Background/Objectives Neural retina leucine zipper (NRL) is a transcription factor involved in the differentiation of rod photoreceptors. Pathogenic variants in the gene encoding NRL have been associated with autosomal dominant retinitis pigmentosa and ...
Maggi J +6 more
europepmc +3 more sources
Pattern retinal dystrophy in a case of myotonic dystrophy
Journal of Clinical Ophthalmology and Research, 2023 Myotonic dystrophy is an autosomal dominant disease which can present with various ocular manifestations. A case of myotonic dystrophy presented with limited visual recovery postcataract surgery. Multimodal imaging analysis, including fundus photography,
Chahveer Singh Bindra +2 more
doaj +1 more source
Gene therapy for retinal dystrophy [PDF]
Nature Medicine, 2019 Counteracting splice defects in the CEP290 gene using RNA antisense oligonucleotides or Cas9-mediated gene editing is a therapeutic strategy for Leber congenital amaurosis type 10—a severe untreatable retinal dystrophy leading to childhood blindness.
Sahel, José-Alain, Dalkara, Deniz
openaire +3 more sources
Molecular Genetics & Genomic Medicine, 2020 Background Biallelic CLN3 gene variants have been found in either juvenile‐onset neuronal ceroid lipofuscinosis (JNCL) or isolated retinal dystrophy.
Kei Mizobuchi +7 more
doaj +1 more source
Clinical trials in retinal dystrophies
Middle East African Journal of Ophthalmology, 2016 Research development is burgeoning for genetic and cellular therapy for retinal dystrophies. These dystrophies are the focus of many research efforts due to the unique biology and accessibility of the eye, the transformative advances in ocular imaging technology that allows for in vivo monitoring, and the potential benefit people would gain from ...
Grob, Seanna R. +3 more
openaire +3 more sources
Applications the Drug Selsoviet with a Combination of Retinal amine in Retinal Dystrophy
, 2022 The article explains the scientific significance of retinal dystrophy. An actual problem in ophthalmology at the present time is retinal dystrophy (DS).
Usmanova Tulganoy Jaloliddinovna
core +1 more source
Early stages of retinal development depend on Sec13 function [PDF]
, 2013 ER-to-Golgi transport of proteins destined for the extracellular space or intracellular compartments depends on the COPII vesicle coat and is constitutive in all translationally active cells.
Feng, Yi +7 more
core +1 more source
Mitochondrial Protection by Exogenous Otx2 in Mouse Retinal Neurons
Cell Reports, 2015 OTX2 (orthodenticle homeobox 2) haplodeficiency causes diverse defects in mammalian visual systems ranging from retinal dysfunction to anophthalmia. We find that the retinal dystrophy of Otx2+/GFP heterozygous knockin mice is mainly due to the loss of ...
Hyoung-Tai Kim +19 more
doaj +1 more source