PURPOSE OF REVIEW: The purpose of this review was to provide a summary of currently available retinal imaging and visual function testing methods for assessing inherited retinal degenerations (IRDs), with the emphasis on the application of deep learn...
The diagnosis of inherited retinal degeneration (IRD) is challenging owing to its phenotypic and genotypic complexity. Clinical information is important before a genetic diagnosis is made. Metabolomics studies the entire picture of bioproducts, which...
Excitotoxicity from the impairment of glutamate uptake constitutes an important mechanism in neurodegenerative diseases such as Alzheimer's, multiple sclerosis, and Parkinson's disease. Within the eye, excitotoxicity is thought to play a critical rol...
Investigative ophthalmology & visual science
Jan 2, 2025
PURPOSE: To quantify outer retina structural changes and define novel biomarkers of inherited retinal degeneration associated with biallelic mutations in RPE65 (RPE65-IRD) in patients before and after subretinal gene augmentation therapy with voretig...
Advances in experimental medicine and biology
Jan 1, 2025
Retinal degenerative diseases caused by retinal pigment epithelium (RPE) dysfunction affect specific areas of the retina. Regions of molecular and phenotypic RPE heterogeneity have been described in the human eye and are thought to underlie geographi...
Translational vision science & technology
Feb 1, 2024
PURPOSE: Artificial intelligence (AI)-assisted ultra-widefield (UWF) fundus photographic interpretation is beneficial to improve the screening of fundus abnormalities. Therefore we constructed an AI machine-learning approach and performed preliminary...
Advances in experimental medicine and biology
Jan 1, 2023
Inherited retinal degenerations (IRDs) are clinically and genetically heterogenous blinding diseases that manifest through dysfunction of target cells, photoreceptors, and retinal pigment epithelium (RPE) in the retina. Despite knowledge of numerous ...
The purpose of this study was to detect the presence of retinitis pigmentosa (RP) based on color fundus photographs using a deep learning model. A total of 1670 color fundus photographs from the Taiwan inherited retinal degeneration project and Natio...