Results 51 to 60 of about 10,175 (170)

Radial outer retina reflectivity (RORR) sign in LAMP2‐associated retinopathy

Acta Ophthalmologica, EarlyView.
Abstract Purpose To describe the radial outer retina reflectivity (RORR) sign in patients carrying pathogenic variants in the X‐linked lysosome‐associated membrane protein‐2 (LAMP2) gene and to review the histologic characteristics of LAMP2 expression in the human retina.
Rachael C. Heath Jeffery, Bohdan Kousal, Ulrike Grünert, Christine A. Curcio, Svetlana Cherepanoff, Tina M. Lamey, Michel Michaelides, Chrysanthi Tsika, Isabelle Chow, Omar A. Mahroo, Seungmin Lee, Martin Meliska, Milos Kubanek, Jakub Sikora, Siying Lin, Raymond C. B. Wong, Petra Liskova, Fred K. Chen   +17 more
wiley   +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

ABCA4‐Associated Retinal Degeneration in 8 Families From the Three Provinces of Northeast China: Identification and Characterization of Potentially Novel Variants

Molecular Genetics &Genomic Medicine, Volume 14, Issue 7, July 2026.
This study reports the documented case of ABCA4‐associated early‐onset severe retinal dystrophy in China, broadens the mutational spectrum of ABCA4 in this population, and highlights distinct genotype–phenotype correlations that may inform clinical management and genetic counseling.
Nian Li, Linlin Su, Yue Ren, Ye Liu, Jiayuan Ge, Henan Sun, Zhuoshi Wang   +6 more
wiley   +1 more source

Epiretinal membrane surgery for combined hamartoma of the retina and retinal pigment epithelium: role of multimodal analysis

Clinical Ophthalmology, 2013
Claudia Bruè, Andrea Saitta, Michele Nicolai, Cesare Mariotti, Alfonso GiovanniniOphthalmology, Department of Neuroscience, Marche Polytechnic University, Ancona, ItalyBackground: The purpose of this study was to evaluate the role of spectral ...
Bruè C, Saitta A, Nicolai M, Mariotti C, Giovannini A   +4 more
doaj  

Recovery of outer retina in acute idiopathic blind spot enlargement (AIBSE)

American Journal of Ophthalmology Case Reports, 2016
Purpose: To report the anatomic and functional recovery of the ellipsoid zone in a case of acute idiopathic blind spot enlargement (AIBSE), which was documented by serial high-resolution optical coherence tomography imaging.
Matthew G.J. Trese, Steven R. Cohen, Cagri G. Besirli   +2 more
doaj   +1 more source

Exudative Retinal Detachments: A Rare Adverse Effect of Topiramate

Clinical Case Reports, Volume 14, Issue 6, June 2026.
ABSTRACT Topiramate‐induced multifocal exudative retinal detachment is a rare but potentially vision‐threatening adverse effect. We report a 59‐year‐old woman with idiopathic intracranial hypertension who developed painless bilateral blurry vision and color desaturation 8 days after initiation of topiramate 25 mg twice daily.
Sarah Aljefri, Meshal Alzakari, Bailasan Milibari, Doaa Milibari   +3 more
wiley   +1 more source

Foundation Models in Diagnosis of Ophthalmic Diseases: Construction and Application

Eye &ENT Research, Volume 3, Issue 2, Page 45-58, June 2026.
ABSTRACT Artificial intelligence holds promise for addressing the uneven distribution of medical resources across different regions. Compared with convolutional neural network models, foundation models offer significant advantages: on one hand, their pre‐training does not rely on massive labeled data; on the other hand, they possess the capability to ...
Xiaolu Huang, Guanran Zhang, Jiayu Xu, Shuyang Chen, Yanrong Li, Xiaodong Sun, Yanlin Qu, Huixun Jia   +7 more
wiley   +1 more source

Retro-mode imaging and fundus autofluorescence with scanning laser ophthalmoscope of retinal dystrophies

BMC Ophthalmology, 2012
Background Retinal dystrophies display a considerably wide range of phenotypic variability, which can make diagnosis and clinical staging difficult.
Maurizio Battaglia, Pierluigi Iacono, Stelios Kontadakis, Stefano Vergallo, Marialucia Cascavilla, Ilaria Zucchiatti, Francesco Bandello   +6 more
doaj   +1 more source

Shifting From Systemic to Precision‐Targeted Complement Therapies: Opportunities and Hurdles

European Journal of Immunology, Volume 56, Issue 6, June 2026.
Complement therapeutics have expanded considerably, but systemic inhibitors remain limited by infection risks, breakthrough events, and loss of physiological functions. Emerging targeted approaches aim for organ‐, tissue‐, or cell‐specific modulation of complement activity, potentially offering greater precision while reducing treatment burden and ...
Marco Mannes, Wioleta M. Zelek, Leendert A. Trouw   +2 more
wiley   +1 more source

Acute Retinal Pigment Epitheliitis: Spectral Domain Optical Coherence Tomography, Fluorescein Angiography, and Autofluorescence Findings

Case Reports in Medicine, 2015
A 17-year-old presented with central and paracentral scotomas in his right eye for one week. There was no remarkable medical or ocular history. Blood analyses were within normal range. At presentation both eyes’ best-corrected visual acuities were 20/20.
Tuğba Aydoğan, Esra Güney, Betül İlkay Sezgin Akçay, Tahir Kansu Bozkurt, Cihan Ünlü, Ahmet Ergin   +5 more
doaj   +1 more source