American Journal of Medical Genetics Part A, Volume 197, Issue 4, April 2025.ABSTRACT Marfan syndrome (MFS) is a well‐characterized rare genetic connective tissue disorder. The features of MFS are primarily skeletal, ocular, and cardiovascular and are mainly caused by single‐nucleotide variants (SNVs) in the FBN1 gene (MIM#134797) located on chromosome 15q21.1.
C. Racine +12 more
wiley +1 more source
Exosomal MicroRNA Profiling in Vitreous Humor Derived From Pathological Myopia Patients. [PDF]
Invest Ophthalmol Vis Sci, 2023 You J +6 more
europepmc +1 more source
Deep Learning-Based Longitudinal Prediction of Childhood Myopia Progression Using Fundus Image Sequences and Baseline Refraction Data [PDF]
arXivChildhood myopia constitutes a significant global health concern. It exhibits an escalating prevalence and has the potential to evolve into severe, irreversible conditions that detrimentally impact familial well-being and create substantial economic costs.
arxiv
Regarding ‘Advances of optical coherence tomography in myopia and pathologic myopia’ [PDF]
, 2017 Edward H. Wood +3 more
openalex +1 more source
The Natural History of Dermatosparaxis Ehlers Danlos Syndrome: An Adult Case Series
American Journal of Medical Genetics Part A, Volume 197, Issue 4, April 2025.ABSTRACT Dermatosparaxis Ehlers Danlos syndrome (dEDS) is a very rare monogenic EDS that occurs due to biallelic pathogenic variants in ADAMTS2. Fifteen individuals with dEDS have been reported in the literature, with the oldest being 19 years at follow‐up.
C. Angwin +8 more
wiley +1 more source
MyopiaDETR: End-to-end pathological myopia detection based on transformer using 2D fundus images. [PDF]
Front Neurosci, 2023 Li M +6 more
europepmc +1 more source
Simulation of a Vision Correction Display System [PDF]
arXivEyes serve as our primary sensory organs, responsible for processing up to 80\% of our sensory input. However, common visual aberrations like myopia and hyperopia affect a significant portion of the global population. This paper focuses on simulating a Vision Correction Display (VCD) to enhance the visual experience of individuals with various visual ...
arxiv
Advanced NanoBiomed Research, Volume 5, Issue 4, April 2025.A flexible lipid–polymer hybrid core–shell nanoparticle system that exhibits organic room‐temperature phosphorescence nanoprobes for real‐time optical imaging of ischemia‐induced tissue hypoxia. These biocompatible nanoprobes are highly sensitive to oxygen quenching and can effectively identify chorioretinal tissue hypoxia in clinically relevant living
Jung‐Moo Heo +5 more
wiley +1 more source
Color doppler ultrasound analysis of pathological myopia induced changes in retrobulbar blood flow and its relationship with characteristic changes in myopia. [PDF]
Pak J Med Sci, 2023 Yu C, Xu C, Wang Z, Zhang X, Huang X.
europepmc +1 more source
Nonlinear pathological trajectory of a high-myopia C57/BL6J mouse model induced by form deprivation
Frontiers in PhysiologyIntroductionTo establish a high myopia model in C57BL/6J mice with monocular form deprivation myopia (FDM) and investigate its ocular structure pathological trajectory.MethodsHealthy 3-week-old C57BL/6J mice were divided into an FDM group (n = 36) and a ...
Yue Wen +35 more
doaj +1 more source