Results 51 to 60 of about 20,458 (217)
Excitotoxicity has been linked to the pathogenesis of several serious degenerative ocular diseases. Long-term overactivation of the NMDA receptor by glutamate in retinal ganglion cells (RGCs) results in degeneration, apoptosis and loss of function ...
Javier Rodríguez Villanueva +4 more
doaj +1 more source
Glaucoma, a major cause of blindness, involves retinal ganglion cell (RGC) degeneration. This study shows growth hormone‐releasing hormone receptor (GHRHR) deficiency preserves RGC survival and restores vision, unlike activation which only aids survival.
Yan Tong +24 more
wiley +1 more source
A nonhuman primate model of inherited retinal disease. [PDF]
Inherited retinal degenerations are a common cause of untreatable blindness worldwide, with retinitis pigmentosa and cone dystrophy affecting approximately 1 in 3500 and 1 in 10,000 individuals, respectively.
Artemyev, Nikolai O +21 more
core
Electroretinography has emerged as a promising tool for identifying retinal functional anomalies in major psychiatric and neurodevelopmental disorders, such as schizophrenia, major depressive disorder, bipolar disorder, and autism spectrum disorder ...
Victoria Soto Linan +2 more
doaj +1 more source
An n‐of‐1 gene‐directed drug repurposing trial for an ultrarare genetic condition
Abstract Objective Gain‐of‐function (GoF) variants in the KCNC1 potassium channel subunit gene (Kv3.1) cause motor/cognitive delays and hypotonia and have been associated with seizures. Fluoxetine has inhibitory effects on Kv3.1. However, open‐label nonrandomized administration is insufficient to guide clinical decision‐making in ultrarare conditions ...
Vedika Jha +13 more
wiley +1 more source
Early-onset primary antibody deficiency resembling common variable immunodeficiency challenges the diagnosis of Wiedeman-Steiner and Roifman syndromes [PDF]
Syndromic primary immunodeficiencies are rare genetic disorders that affect both the immune system and other organ systems. More often, the immune defect is not the major clinical problem and is sometimes only recognized after a diagnosis has been made ...
Bogaert, Delfien +13 more
core +2 more sources
Refsum disease is a rare inherited metabolic disorder arising from a defect in peroxisomal metabolism. Patients lack the functional enzyme phytanoyl‐CoA hydroxylase, resulting in perturbed alpha oxidation of fatty acids.
Matthew D. Benson +3 more
doaj +1 more source
ABSTRACT The age‐related decline in accommodative function after the age of 50 years corresponds with an increasing incidence of primary angle‐closure disease (PACD); however, the interaction between this decline and PACD remains unexamined. Additionally, refractive error‐accommodation associations in elderly individuals, which are critical for PACD ...
Feng‐Rui Yang +6 more
wiley +1 more source
Urocortin 2 Gene Transfer Improves Glycemic Control and Reduces Retinopathy and Mortality in Murine Insulin Deficiency. [PDF]
Type 1 diabetes affects 20 million patients worldwide. Insulin is the primary and commonly the sole therapy for type 1 diabetes. However, only a minority of patients attain the targeted glucose control and reduced adverse events.
Bhargava, Raag +10 more
core
Electroretinography in dogs using a fiber electrode prototype [PDF]
We compared two electroretinography (ERG) electrodes in dogs using ERG standards of the International Society for Clinical Electrophysiology of Vision (ISCEV). Ten healthy Yorkshire terrier dogs (mean age, 2.80 +/- 1.42 years; 6 females) weighing 5.20 +/-
Berezovsky, Adriana [UNIFESP] +5 more
core +1 more source

