Results 101 to 110 of about 27,235 (216)

Phenotypic Divergence in C19ORF44-Associated Retinal Degeneration despite an Identical Genotype: A Case Report

Case Reports in Ophthalmology
Introduction: C19ORF44 has recently been identified as a gene associated with autosomal recessive inherited retinal disease (IRD). The function of the gene remains poorly understood, and a previously reported case with identical primary ...
Lucas Yan Bin Ng, Mathieu Quinodoz, Tien-En Tan, Rachael W.C. Tang, Carlo Rivolta, Beau J. Fenner   +5 more
doaj   +1 more source

Expanding the Genotypic Spectrum of POMGNT1‐Related Muscle‐Eye‐Brain Disease: A Case Report

Molecular Genetics &Genomic Medicine, Volume 14, Issue 8, August 2026.
Compound heterozygous variants in the POMGNT1 gene expand the genotypic spectrum of Muscle‐Eye‐Brain disease, highlighting severe epilepsy with status epilepticus. Despite long disease duration, seizure freedom was achieved with intensive antiseizure polytherapy, underscoring the importance of continued therapeutic optimization in dystroglycanopathies.
Evripidis Pityrigkas, Vasiliki Poulidou, Stefania Kalampokini, Eleni Liouta, Georgia Pepe, Martha Spilioti, Vasilios K. Kimiskidis   +6 more
wiley   +1 more source

Case series: The role of retinal ischemia in the pathogenesis and clinical manifestation of diabetic retinopathy

Optometry and Vision Science, Volume 103, Issue 8, August 2026.
ABSTRACT Purpose To highlight retinal ischemia as an important component of diabetic retinopathy (DR) pathogenesis, a significant prognostic factor, and a driver of various DR complications, including neovascularization. We aim to describe the main features of ischemic areas that can be identified through fundoscopy, color fundus photography, optical ...
Marina Guro, Henrietta Wang, Jack Phu, Kaitlyn A. Sapoznik, Hamza Shah, Maggie L. Zhang, Michael Kalloniatis   +6 more
wiley   +1 more source

Mutational Profile and Retinal Phenotypes of PCARE-Related Cone-Rod Dystrophies in a Mexican Cohort

Journal of Ophthalmology
Purpose. The aim of the study is to describe the genotype and phenotype of a Mexican cohort with PCARE-related retinal disease. Methods. The study included 14 patients from 11 unrelated pedigrees with retinal dystrophies who were demonstrated to carry ...
Víctor R. López-Rodríguez, Rocío Arce-González, Alan Martínez-Aguilar, Carlos E. Rodríguez-López, Sergio Groman-Lupa, M. Isabel Neria-González, Genaro Rodríguez-Uribe, Juan C. Zenteno   +7 more
doaj   +1 more source

Advancing Treatment of Degenerative Eye Diseases at the Nanoscale

Smart Medicine, Volume 5, Issue 4, August 2026.
Nanotherapeutics possess the potential to overcome longstanding bottlenecks in treating degenerative ophthalmic diseases. With a highly tunable surface chemistry, nanotechnology platforms can be customized to navigate specific anatomical barriers in the eye and target pathways of diseases.
Li Yao Jin, Evashiniee G. P. Selvam, Qinsong Mei, Chi D. Luu, Yeannie H. Y. Yap, Daniel B. L. Teh   +5 more
wiley   +1 more source

Injectable Artificial Photoreceptors: STEM Cell Functional Integration and in vivo Electrophysiological Validation in Retinal Degeneration Models

Small Science, Volume 6, Issue 8, August 2026.
Artificial photoreceptors are engineered to efficiently absorb light, with the strongest sensitivity in the green region of the visible spectrum. Upon illumination, they generate electrical signals that activate retinal ganglion cells, which are typically unaffected by disease, enabling transmission of visual information to the brain.
Afshin Izadian, Ali Torkashvand, Benjamin Allan McCall, Yong Gao, Christine M. Taylor, Fateme Karimi Hafshejani, Arupratan Das, Michelle L. Surma, Sunland Gong, Amir Reza Hajrasouliha   +9 more
wiley   +1 more source

Staging concept for aging management: Definition, mechanism, and coping strategies

VIEW, Volume 7, Issue 4, August 2026.
We divided the overall aging stage into “pre‐aging”, “aging compensation”, and “aging disability”. For each stage, we delineate the clinical presentations, biological phenomena, theoretical underpinnings, and key management priorities. Abstract Aging, as a gradual and largely irreversible biological process, characterized by declining organismal ...
Zhonghan Wang, Shixian Liu, Shangyu Du, Xiangran Cui, Bo Chao, Minglei Liu, Minfei Wu   +6 more
wiley   +1 more source

Ray‐Tracing‐Based Intraocular Lens Power Calculation in Combined Cataract Surgery and Descemet Membrane Endothelial Keratoplasty

Clinical &Experimental Ophthalmology, Volume 54, Issue 6, Page 769-778, August 2026.
ABSTRACT Background To compare the predictive accuracy of ray tracing‐based intraocular lens (IOL) power calculation formulas with the Barrett Universal II (BUII) formula in eyes with Fuchs endothelial corneal dystrophy (FECD) undergoing combined cataract surgery and Descemet membrane endothelial keratoplasty (triple DMEK).
Jan O. Weber, Klemens P. Kaiser, Jascha A. Wendelstein, H. Burkhard Dick, Thomas Kohnen, Ingo Schmack   +5 more
wiley   +1 more source

Antisense oligonucleotide allele-specific targeting of EFEMP1 in a patient-derived model of Doyne honeycomb retinal dystrophy. [PDF]

Mol Ther Nucleic Acids
Rezek FO, Sanchez-Pintado B, Eden ER, Corral-Serrano JC, Aychoua N, Webster AR, de Guimarães TAC, Carr AF, Michaelides M, Cheetham ME, van der Spuy J.   +10 more
europepmc   +2 more sources

Deep‐Intronic Variant in RUNX2 Causing Pseudo‐Exon Inclusion in a Family With Cleidocranial Dysplasia

Clinical Genetics, Volume 110, Issue 2, Page 268-269, August 2026.
A deep‐intronic single nucleotide variant in RUNX2 causes the characteristic clinical features of cleidocranial dysplasia (CCD) in a family via pseudo‐exon inclusion into the mRNA. The pseudo‐exon contains a premature stop codon and triggers mRNA decay, which results in RUNX2 haploinsufficiency, the known disease mechanism.
Dorothea Stojanovic, Dorota Garczarczyk‐Asim, Julia Vodopiutz, Andreas R. Janecke   +3 more
wiley   +1 more source