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| http://dx.doi.org/10.1136/bjo.2006.100933 | DOI Listing |
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Automated quantification of anterior chamber cells using swept-source anterior segment optical coherence tomography.
J Ophthalmic Inflamm Infect
January 2025
Ocular Inflammatory Disease Center, UCLA Jules Stein Eye Institute, Los Angeles, USA.
Purpose: To validate automated counts of presumed anterior chamber (AC) cells in eyes with histories of uveitis involving the anterior segment using swept-source (SS) anterior segment optical coherence tomography (AS-OCT) against manual counts and compare automated counts against Standardized Uveitis Nomenclature (SUN) criteria.
Methods: Eyes were imaged with the ANTERION SS AS-OCT device (Heidelberg Engineering). A fully automated custom algorithm quantified the number of hyper-reflective foci (HRF) in line-scan images.
Single-cell analysis of the epigenome and 3D chromatin architecture in the human retina.
bioRxiv
December 2024
Department of Cellular and Molecular Medicine, UC San Diego, La Jolla, CA 92037, USA.
Most genetic risk variants linked to ocular diseases are non-protein coding and presumably contribute to disease through dysregulation of gene expression, however, deeper understanding of their mechanisms of action has been impeded by an incomplete annotation of the transcriptional regulatory elements across different retinal cell types. To address this knowledge gap, we carried out single-cell multiomics assays to investigate gene expression, chromatin accessibility, DNA methylome and 3D chromatin architecture in human retina, macula, and retinal pigment epithelium (RPE)/choroid. We identified 420,824 unique candidate regulatory elements and characterized their chromatin states in 23 sub-classes of retinal cells.
View Article and Find Full Text PDFDPPX antibody-mediated disease mimicking Wernicke's encephalopathy.
BMJ Case Rep
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Neurology, Joondalup Health Campus, Joondalup, Western Australia, Australia.
Anti-dipeptidyl-peptidase-like protein 6 antibody-mediated disease is a rare autoimmune encephalitis typically presenting with diarrhoea and/or weight loss, central nervous system hyperexcitability and cognitive dysfunction. We present a case of a young woman with 10 days of diplopia and unsteadiness in the context of dysthymia and significant weight loss over 2 months. Initial examination demonstrated mixed dysconjugate nystagmus and ataxic gait.
View Article and Find Full Text PDFVisual deprivation and axial myopia: Considerations on long-term ocular development.
Eur J Ophthalmol
January 2025
Department of Neurosciences, Reproductive Sciences and Dentistry, University of Naples "Federico II", Naples, Italy.
Introduction: Severe visual deprivation during infancy can lead to long-term changes in ocular development, including significant differences in axial length (AL) between eyes. This case report presents three adult patients with monocular infantile visual deprivation who developed substantial AL interocular differences. The aim is to explore the impact of early visual deprivation on AL and its potential implications for myopia progression.
View Article and Find Full Text PDFFurther evidence that a specific homozygous variant results in non-syndromic maculopathy and can be mistaken for prior ocular toxoplasmosis infection.
Ophthalmic Genet
January 2025
Eye Institute, Cleveland Clinic Abu Dhabi, Abu Dhabi, United Arab Emirates.
Introduction: Round atrophic macular scars with a hyperpigmented rim in an otherwise healthy child are characteristic for prior ocular toxoplasmosis infection, the most common etiology of self-resolved retinitis in immunocompetent patients. However, a specific homozygous gene mutation (NM_148960: : c. 263T>A; p.
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