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| http://dx.doi.org/10.1136/bjo.87.4.500-a | DOI Listing |
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Discovery of non-retinoid compounds that suppress the pathogenic effects of misfolded rhodopsin in a mouse model of retinitis pigmentosa.
PLoS Biol
January 2025
Department of Pharmacology and Cleveland Center for Membrane and Structural Biology, School of Medicine, Case Western Reserve University, Cleveland, Ohio, United States of America.
Pathogenic mutations that cause rhodopsin misfolding lead to a spectrum of currently untreatable blinding diseases collectively termed retinitis pigmentosa. Small molecules to correct rhodopsin misfolding are therefore urgently needed. In this study, we utilized virtual screening to search for drug-like molecules that bind to the orthosteric site of rod opsin and improve its folding and trafficking.
View Article and Find Full Text PDFUnraveling the genetic spectrum of inherited deaf-blindness in Portugal.
Orphanet J Rare Dis
January 2025
Ophthalmology Department, Centro Hospitalar e Universitário de Coimbra (CHUC), Hospitais da Universidade de Coimbra (HUC), ULS Coimbra, Praceta Prof. Mota Pinto, 3000-075, Coimbra, Portugal.
Background: Syndromic genetic disorders affecting vision can also cause hearing loss, and Usher syndrome is by far the most common etiology. However, many other conditions can present dual sensory impairment. Accurate diagnosis is essential for providing patients with genetic counseling, prognostic information, and appropriate resources.
View Article and Find Full Text PDFA Comprehensive Analysis of Sex-Biased Gene Expression in the Aging Human Retina Through a Combination of Single-Cell and Bulk RNA Sequencing.
Invest Ophthalmol Vis Sci
January 2025
Southwest Hospital/Southwest Eye Hospital, Third Military Medical University (Army Medical University), Chongqing, China.
Purpose: Previous studies have reported divergent sexual responses to aging; however, specific variations in gene expression between aging males and females and their potential association with age-related retinal diseases remain unclear. This study collected data from public databases and developed a comprehensive comparison of retina between aging females and males.
Methods: Single-cell RNA (scRNA) and bulk RNA sequencing data of the aging retina from females and males in public databases were utilized for integrated analysis to investigate sex-biased expression in retina.
A membrane-targeted photoswitch restores physiological ON/OFF responses to light in the degenerate retina.
Nat Commun
January 2025
Center for Synaptic Neuroscience, Istituto Italiano di Tecnologia, Genova, Italy.
The lack of effective therapies for visual restoration in Retinitis pigmentosa and macular degeneration has led to the development of new strategies, such as optogenetics and retinal prostheses. However, visual restoration is poor due to the massive light-evoked activation of retinal neurons, regardless of the segregation of visual information in ON and OFF channels, which is essential for contrast sensitivity and spatial resolution. Here, we show that Ziapin2, a membrane photoswitch that modulates neuronal capacitance and excitability in a light-dependent manner, is capable of reinstating, in mouse and rat genetic models of photoreceptor degeneration, brisk and sluggish ON, OFF, and ON-OFF responses in retinal ganglion cells evoked by full-field stimuli, with reactivation of their excitatory and inhibitory conductances.
View Article and Find Full Text PDFBilateral Retinal Neovascularization in a CRB1 Retinitis Pigmentosa Patient.
Ophthalmol Retina
January 2025
Eye Institute and Department of Ophthalmology, Eye & ENT Hospital, Fudan University, Shanghai, China; Shanghai Key Laboratory of Visual Impairment and Restoration, Shanghai, China; NHC Key Laboratory of Myopia and Related Eye Diseases; Key Laboratory of Myopia and Related Eye Diseases, Chinese Academy of Medical Sciences, Shanghai, China.
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