Patient-based research plays a key role in probing basic visual mechanisms. Less-well recognized is the role of patient-based retinal imaging and visual function studies in elucidating disease mechanisms, which are accelerated by advances in imaging and function techniques and are most powerful when combined with the results from histology and animal models.A patient's visual complaints can be one key to patient management, but human data are also key to understanding disease mechanisms. Unfortunately, pathological changes can be difficult to detect. Before advanced retinal imaging, the measurement of visual function indicated the presence of pathological changes that were undetectable with existing clinical examination. Over the past few decades, advances in retinal imaging have increasingly revealed the unseen. This has led to great strides in the management of many diseases, particularly diabetic retinopathy and macular edema, and age-related macular degeneration. It is likely widely accepted that patient-based research, as in clinical trials, led to such positive outcomes. Both visual function measures and advanced retinal imaging have clearly demonstrated differences among retinal diseases. Contrary to initial thinking, sight-threatening damage in diabetes occurs to the outer retina and not only to the inner retina. This has been clearly indicated in patient results but has only gradually entered the clinical classifications and understanding of disease etiology. There is strikingly different pathophysiology for age-related macular degeneration compared with photoreceptor and retinal pigment epithelial genetic defects, yet research models and even some treatments confuse these. It is important to recognize the role that patient-based research plays in probing basic visual mechanisms and elucidating disease mechanisms, combining these findings with the concepts from histology and animal models. Thus, this article combines sample instrumentation from my laboratory and progress in the fields of retinal imaging and visual function.
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http://dx.doi.org/10.1097/OPX.0000000000002029 | DOI Listing |
Mol Ther
January 2025
Department of Molecular Medicine, University of Southern Denmark; Odense, 5230, Denmark. Electronic address:
Neovascular age-related macular degeneration and diabetic macular edema are leading causes of vision-loss evoked by retinal neovascularization and vascular leakage. The glycoprotein microfibrillar-associated protein 4 (MFAP4) is an integrin αβ ligand present in the extracellular matrix. Single-cell transcriptomics reveal MFAP4 expression in cell-types in close proximity to vascular endothelial cells including choroidal vascular mural cells and retinal astrocytes and Müller cells.
View Article and Find Full Text PDFJ AAPOS
January 2025
University of Health Sciences, Department of Ophthalmology, Başakşehir Cam and Sakura City Hospital, Istanbul, Turkey.
Purpose: To use swept-source optical coherence tomography angiography (SS-OCTA) to investigate the alterations in retinal vascular density (VD) in patients presenting with congenital unilateral trochlear nerve palsy.
Methods: The medical records of patients diagnosed with congenital unilateral trochlear nerve palsy and those of a healthy control group were reviewed retrospectively. Comprehensive ocular examinations and SS-OCTA imaging were conducted.
Comput Methods Programs Biomed
January 2025
Regional Institute of Ophthalmology, Indira Gandhi Institute of Medical Sciences, Patna, 800025, Bihar, India.
Background And Objectives: Hypertensive Retinopathy (HR) is a retinal manifestation resulting from persistently elevated blood pressure. Severity grading of HR is essential for patient risk stratification, effective management, progression monitoring, timely intervention, and minimizing the risk of vision impairment. Computer-aided diagnosis and artificial intelligence (AI) systems play vital roles in the diagnosis and grading of HR.
View Article and Find Full Text PDFMed Biol Eng Comput
January 2025
School of Automation and Information Engineering, Sichuan University of Science & Engineering, Key Laboratory of Artificial Intelligence, Yibin, 644000, Sichuan, China.
Accurately classifying optical coherence tomography (OCT) images is essential for diagnosing and treating ophthalmic diseases. This paper introduces a novel generative adversarial network framework called MGR-GAN. The masked image modeling (MIM) method is integrated into the GAN model's generator, enhancing its ability to synthesize more realistic images by reconstructing them based on unmasked patches.
View Article and Find Full Text PDFBiochem Genet
January 2025
Immunology Research Center, Tabriz University of Medical Sciences, Tabriz, Iran.
One in 16, 000 live births is affected by the retinal tumor RB (retinoblastoma), which is frequently found in a child's early years. Both of the RB1 alleles that have been locally mutated in the affected retina are present in 60 percent of cases. Retinoblastoma (RB) can be detected using a variety of techniques, including imaging of the brain and orbits, eye examinations under anesthesia (EUAs), and the discovery of cell-free tumor DNA in samples of aqueous humor or plasma.
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