Results 181 to 190 of about 78,413 (264)

Clinical manifestations of dual‐gene variants in retinitis pigmentosa

Acta Ophthalmologica, EarlyView.
Abstract Purpose Retinitis pigmentosa (RP) is an inherited retinal disease (IRD), whereby each affected individual typically harbours pathogenic variants in a single causative gene, yet the disorder exhibits marked genetic heterogeneity, with more than 100 genes reported to underlie RP.
Lasse Wolfram, Jan‐Philipp Bodenbender, David A. Merle, Milda Reith, Anton Sonntag, Krunoslav Stingl, Tobias B. Haack, Theresia Zuleger, Bernd Wissinger, Laura Kühlewein, Katarina Stingl, Susanne Kohl   +11 more
wiley   +1 more source

Long-term functional synaptic integration of genome-edited retinal organoids in a primate model of macular degeneration. [PDF]

Mol Ther
Ozaki A, Kawai A, Akiba R, Okayama S, Ohno N, Kajita K, Masuda T, Yokota S, Ito SI, Peiyan D, Onoue K, Yonemura S, Kondo M, Kurimoto Y, Fu Y, Mandai M.   +15 more
europepmc   +1 more source

Retinal dystrophies simulating geographic atrophy: A diagnostic challenge

Acta Ophthalmologica, EarlyView.
Abstract Geographic atrophy (GA) is the chronic loss of retinal pigment epithelium, photoreceptors and choriocapillaris, marking the dry late stage of age‐related macular degeneration (AMD). GA prevalence is expected to rise in the upcoming decades. Advanced GA leads to central scotomas, reducing visual acuity and quality of life, potentially resulting
Johanna M. Colijn, Frank G. Holz, Jeroen Pas, Carel Hoyng   +3 more
wiley   +1 more source

Mechanistic insights into the role of PEDF-R (PNPLA2) in photoreceptors. [PDF]

Biosci Rep
Becerra SP.
europepmc   +1 more source

Macular telangiectasia type 2 genetic risk variants associated with clinical characteristics in the Slovenian cohort

Acta Ophthalmologica, EarlyView.
Abstract Purpose Early diagnosis of macular telangiectasia type 2 (MacTel) remains challenging, and the contribution of genetic variation to its clinical heterogeneity is unclear. This study investigated associations between MacTel risk variants and clinical characteristics in a Slovenian cohort.
Ajda Kunčič, Nataša Debeljak, Petra Hudler, Janez Smerkolj, Mojca Urbančič   +4 more
wiley   +1 more source

Hyperglycemic stress aggravates diabetic retinopathy and nephropathy by promoting cilium disassembly via a deacetylation- and methylation-mediated regulatory mechanism. [PDF]

PLoS Biol
Ran J, Wei C, Yang Y, Zhang Y, Guo G, Ma N, Yin L, Fan H, Li J, Guo H, Zhang R, Wang R, Li D, Liu M.   +13 more
europepmc   +1 more source

Systematic quantification of outer retinal morphology in three different SD‐OCT devices in geographic atrophy

Acta Ophthalmologica, EarlyView.
Abstract Purpose To define interdevice differences in quantitative outer retinal biomarkers across three spectral‐domain (SD) optical coherence tomography (OCT) devices in geographic atrophy (GA). Methods Patients with GA prospectively underwent imaging using Spectralis (Heidelberg Engineering), Cirrus (Zeiss) and Maestro (Topcon) OCT devices ...
Klaudia Birner, Sophie Frank‐Publig, Julia Mai, Anna Eidenberger, Johannes Schrittwieser, Gabriel Leitner‐Barrios, Magdalena Barasits, Markus Gumpinger, Gregor S. Reiter, Stefan Sacu, Ursula Schmidt‐Erfurth   +10 more
wiley   +1 more source

Mapping the chaperonin TRiC/CCT interactome in mouse photoreceptors reveals functional significance for energy metabolism. [PDF]

PLoS One
Brooks C, Salcedo-Tacuma D, Mascari I, Eminhizer M, Ngo T, Kolson D, Sechrest E, Guan T, Billington N, Deng WT, Smith D, Du J, Skiba N, Sokolov M.   +13 more
europepmc   +1 more source

Proliferative vitreoretinopathy: An integrative, multi‐pathway perspective on pathogenesis and therapy

Acta Ophthalmologica, EarlyView.
Abstract Proliferative vitreoretinopathy (PVR) remains the principal biological cause of failed retinal detachment repair. Classical pathogenic models centred on retinal pigment epithelium (RPE) dispersion, retinal injury responses or compartment‐restricted mechanisms do not fully explain the heterogeneity, biomechanical behaviour and clinical ...
Koen A. van Overdam, J. Sebag
wiley   +1 more source

Regulatory changes underlying the evolution of skylight navigation. [PDF]

iScience
Roth H, Sarfert M, Simdianova A, Balke J, Perry MW, Nowick K, Wernet MF.   +6 more
europepmc   +1 more source