Purpose: To analyze using the high magnification module (HMM) a case of peripapillary congenital hypertrophy of retinal pigment epithelium (CHRPE) and to correlate the findings to multimodal imaging and swept-source optical coherence tomography angiography (SS-OCTA, PLEX® Elite 9000, Carl Zeiss Meditec, Dublin, California, USA) imaging.
Observations: A 57-year-old Caucasian woman presenting a peripapillary CHRPE of the left eye (LE) was examined using HMM and SS-OCTA, in addition to multimodal imaging. SS-OCTA disclosed the gradual changes, with four distinguishable zones: Zone 1 with complete outer retinal and retinal pigment epithelium (RPE) atrophy, Zones 2 and 3, corresponding to incomplete outer retinal (and RPE) atrophy presenting increased flow deficits, and normal choriocapillaris outside the lesion (Zone 4). High Magnification Module (HMM, Spectralis ®, Heidelberg Engineering) showed small polygonal hyperreflective outlines over the pigmented parts of the lesion (Zone 2), and partly over the narrow halo surrounding the lesion (Zone 3), with an absence of these outlines over the lacunae (Zone 1).
Conclusions And Importance: HMM is a non-invasive imaging modality, allowing the in vivo visualization of a mosaic pattern, corresponding to the hyperreflective polygonal outlines, or absence thereof, in different zones of CHRPE.
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http://dx.doi.org/10.1016/j.ajoc.2020.100952 | DOI Listing |
ACS Appl Bio Mater
January 2025
Koç University Translational Medicine Research Center, Koç University, Istanbul 34450, Turkey.
There is growing interest in generating in vitro models of tissues and tissue-related diseases to mimic normal tissue organization and pathogenesis for different purposes. The retina is a highly complex multicellular tissue where the organization of the cellular components relative to each other is critical for retinal function. Many retinopathies arise due to the disruption of this order.
View Article and Find Full Text PDFThe retinal pigment epithelium (RPE) performs a number of functions essential for retinal health. RPE dysregulation and degeneration can occur in diseases. Methods to image the human RPE directly are limited, as it is only about 10 µm thick and situated between the photoreceptor outer segments and Bruch's membrane (BM).
View Article and Find Full Text PDFGraefes Arch Clin Exp Ophthalmol
January 2025
Department of Ophthalmology, University Hospital Munster, Munster, Germany.
Purpose: The retinal pigment epithelium (RPE) plays an important role in the pathogenesis of age-related macular degeneration (AMD) and other retinal degenerative diseases. The introduction of healthy RPE cell cultures into the subretinal space offers a potential treatment strategy. The aim of this study was the long-term culture and characterisation of RPE cells on nanofiber scaffolds.
View Article and Find Full Text PDFEur J Hum Genet
January 2025
Service de Génétique Médicale, Centre Hospitalier Universitaire de Bordeaux, Bordeaux, France.
Pigmentation is orchestrated by hundreds of genes involved in cellular functions going from early developmental fate of pigment cells to melanin synthesis. The Two Pore Channel 2 (TPC2) a Ca2+ and Na+ channel acidifies melanosomal pH and thus inhibits pigmentation. A young patient was recently reported with generalized hypopigmentation but uneventful ocular examination, caused by the de novo heterozygous TPCN2 variant c.
View Article and Find Full Text PDFPLoS 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.
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