Results 151 to 160 of about 73,477 (262)

Abca4, mutated in Stargardt disease, is required for structural integrity of cone outer segments

Disease Models & Mechanisms
John J. Willoughby, Abbie M. Jensen
doaj   +1 more source

Optical Coherence Tomography Biomarkers Predicting Progression to Atrophy in Non-Exudative Age-Related Macular Degeneration. [PDF]

Diagnostics (Basel)
Prus-Ludwig A, Wylęgała A, Wylęgała E, Kijonka M, Wowra B.   +4 more
europepmc   +1 more source

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

Longitudinal Tracking of Photoreceptor Integrity in Neovascular AMD: Early Restoration Predicts 24-Month Structural and Visual Outcomes. [PDF]

Invest Ophthalmol Vis Sci
Pu J, Zhuang X, Hao X, Li M, Su Y, He G, He Y, Zhang G, Wen F.   +8 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

Pathogenic mechanisms of <i>RPGR</i> mutations in X-linked retinitis pigmentosa: integrating clinical pedigree and single-cell transcriptomics. [PDF]

Front Genet
Wang X, Bai Y, Zuo X, Lei X, Wang X, Zou G.   +5 more
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

Downregulating <i>Nrl</i> Expression and Rod Photoreceptor Protection. [PDF]

Int J Mol Sci
Li Y, Jiao S, Tao W, Wen R.
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

Prominin-1 and Retinal Degenerative Disorders: Expanding the Biology from Photoreceptors to the Retinal Pigment Epithelium. [PDF]

Biomolecules
Bhattacharya S, Ang C, Soucy M, Tsang SH, Chaum E.   +4 more
europepmc   +1 more source