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Gene and phenome-based analysis of the shared genetic architecture of eye diseases.
Am J Hum Genet
January 2025
Vanderbilt Genetics Institute, Vanderbilt University Medical Center, Nashville, TN, USA; Division of Genetic Medicine, Department of Medicine, Vanderbilt University Medical Center, Nashville, TN, USA. Electronic address:
While many eye disorders are linked through defects in vascularization and optic nerve degeneration, genetic correlation studies have yielded variable results despite shared features. For example, glaucoma and myopia both share optic neuropathy as a feature, but genetic correlation studies demonstrated minimal overlap. By leveraging electronic health record (EHR) resources that contain genetic variables such as genetically predicted gene expression (GPGE), researchers have the potential to improve the identification of shared genetic drivers of disease by incorporating knowledge of shared features to identify disease-causing mechanisms.
View Article and Find Full Text PDFMeta-analysis of retinal transcriptome profiling studies in animal models of myopia.
Front Med (Lausanne)
January 2025
Department of Ophthalmology, Emory University, Atlanta, GA, United States.
Objective: Myopia prevalence is increasing at alarming rates, yet the underlying mechanistic causes are not understood. Several studies have employed experimental animal models of myopia and transcriptome profiling to identify genes and pathways contributing to myopia. In this study, we determined the retinal transcriptome changes in response to form deprivation in mouse retinas.
View Article and Find Full Text PDFThere has been an increasing need for small, low-cost, and low-power consumption optical transceivers for short-reach fiber links. Waveguide-integrated photodetectors (PDs) with wide bandwidth and high responsivity on Si photonics platforms are an essential element for these applications. We have fabricated an O-band membrane PD which is suitable for integration with high-performance III-V-based membrane devices such as lasers and modulators, and passive waveguide circuits on the Si photonics platforms.
View Article and Find Full Text PDF3D ophthalmic ultrasonography at the slit lamp using existing ultrasound systems.
PLoS One
January 2025
Department of Ophthalmology, Gavin Herbert Eye Institute, University of California Irvine, Irvine, California, United States of America.
Purpose: This study aims to explore the feasibility and performance of three-dimensional ultrasound (3DUS) imaging in ophthalmology using commercially available ultrasound probes adapted to a slit lamp.
Significance: Despite ultrasound's long-standing application in eye care for visualizing ocular components, the evolution of 3DUS technology has remained inactive, with limited development and commercial availability. This study introduces a novel method that could potentially enhance ophthalmic diagnostics and treatment planning by providing comprehensive 3D views of ocular structures using existing ultrasound probes adapted to the conventional slit lamp.
A TTPA deletion is associated with Retinopathy with Vitamin E Deficiency (RVED) in the English Cocker Spaniel Dog.
G3 (Bethesda)
January 2025
Canine Genetics Centre, Department of Veterinary Medicine, University of Cambridge, Cambridgeshire, CB3 0ES, UK.
Retinopathy with Vitamin E Deficiency (RVED) is a familial disease in the English Cocker Spaniel (ECS) dog breed. Ophthalmic abnormalities observed in RVED-affected ECS include lipofuscin granule deposition within the tapetal fundus and subsequent retinal degeneration resulting in visual deficits. Affected dogs may also exhibit neurological signs that include ataxia and hindlimb proprioceptive deficit.
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