Results 51 to 60 of about 2,813 (161)

Clinical Features and Surgical Outcomes of Cats With Presumed Primary Lens Instability: A Retrospective Study of 34 Cases (2018–2022)

Veterinary Ophthalmology, Volume 29, Issue 4, July 2026.
ABSTRACT Objective Describe the clinical features, disease progression, and outcomes of presumed primary lens instability (PLI) in cats, and to assess its association with glaucoma. Animals Studied Thirty‐four cats (68 eyes). Procedures Medical records were reviewed for signalment, clinical history, ophthalmic findings, and treatment.
Havi Sarfaty, Raaya Ezra‐Elia, Nili Kahane, Shai Sandalon, Yifat Segev, Lionel Sebbag   +5 more
wiley   +1 more source

Uncovering the Hidden World of Aqueous Humor Proteins for Discovery of Biomarkers for Marfan Syndrome

Advanced Science
Ectopia lentis is a hallmark of Marfan syndrome (MFS), a genetic connective tissue disorder affecting 1/5000 to 1/10 000 individuals worldwide. Early detection in ophthalmology clinics and timely intervention of cardiovascular complications can be ...
Yumeng Shi, Jiahui Chen, Lei Cai, Xueling Zhang, Zexu Chen, Jin Yang, Yongxiang Jiang, Yi Lu   +7 more
doaj   +1 more source

Genetic Bone Diseases: A Scoping Review of Pathology, Symptoms, Diagnosis, Treatment, and New Horizons

Advanced Genetics, Volume 7, Issue 2, June 2026.
This review highlights six genetic diseases of the bone, aiming to provide clinicians and researchers with updated information on their diagnosis and treatment. It also includes an assessment of common clinical and radiographic findings, along with pathophysiology related to diseases.
Colin Jones, Ambalangodage C. Jayasuriya
wiley   +1 more source

Marfan Syndrome Associated With Intellectual Disability and Behavioral Anomalies: Further Evidence for the Effect of Compound Heterozygous Variants in FBN1 on Phenotypic Severity

American Journal of Medical Genetics Part A, Volume 200, Issue 5, Page 1021-1035, May 2026.
ABSTRACT Marfan syndrome (MFS) is a rare connective tissue disorder characterized by involvement of the cardiovascular, ocular, and musculoskeletal systems. Pathogenic variants in FBN1 cause most of the MFS cases; however, intellectual disability (ID) is rarely observed. A non‐consanguineous Pakistani family with four affected individuals was recruited.
Azmatullah Khan, Naseebullah Kakar, Ainullah Kakar, Malte Spielmann, Sajid Malik   +4 more
wiley   +1 more source

Clinical diagnostics of fibrillinopathies (type 1)

Российский кардиологический журнал, 2013
Diagnostic criteria are presented for the syndromes related to mutations of fibrillin gene type 1 (such as Marfan syndrome, ectopia lentis, MASS phenotype, mitral valve prolapse syndrome, stiff skin syndrome, Shprintzen-Goldberg syndrome) and for the ...
E. L. Trisvetova
doaj   +1 more source

Congenital aniridia: European COST action ANIRIDIA‐NET guidelines for diagnosis, management and care

Acta Ophthalmologica, Volume 104, Issue 3, Page 267-279, May 2026.
Abstract Congenital aniridia is a rare ocular disorder affecting the majority of eye structures and can be associated with systemic manifestations. The main visible phenotypic characteristic is the partial or complete absence of the iris; however, foveal hypoplasia is a more frequent and reliable clinical sign. Other ocular comorbidities are associated
Davide Romano, Vito Romano, Alejandra Daruich, Giulio Ferrari, Matthieu Robert, Francesco Semeraro, Neil Lagali, Dominique Bremond‐Gignac, the ANIRIDIA‐NET Clinical Guidelines Working Group, Miriam Barbany, Claus Cursiefen, Stefano Ferrari, Francisco Figueiredo, Christina Grupcheva, Jesper Hjortdal, Elke Kreps, Erlend Landsend, Laura Mauring, Hilde Pedersen, Nora Szentmáry, Bogumil Wowra, the Aniridia‐Europa and Geniris Working Group, Sophie Valleix, Juan Álvarez de Toledo, James Lauderdale, Tor Paaske Utheim, Paolo Rama   +26 more
wiley   +1 more source

Targeting PRKCN, an Essential Driver Orchestrating mTOR‐IRF4 Axis Independently of Kinase Activity, in Multiple Myeloma

Advanced Science, Volume 13, Issue 21, 13 April 2026.
Constitutive PRKCN expression is driven by super‐enhancers and modulated by NF‐κB signaling in multiple myeloma (MM). PRKCN activates mTORC1/2‐IRF4 signaling axis and favors tumor cell growth independently of its kinase activity. IRF4 reciprocally promotes PRKCN transcription, creating a feed‐forward loop.
Koukou Tang, Dongpeng Jiang, Peng Ke, Xiaosen Bian, Lili Zhang, Ying Zhang, Tingting Zhu, Weiwei Qu, Wenhui Qi, Yang Xu, Chengcheng Fu, Depei Wu, Jianhong Chu   +12 more
wiley   +1 more source

Neonatal molybdenum cofactor deficiency and ectopia lentis in a Saudi Arabian patient

International Journal of Pediatrics & Adolescent Medicine, 2014
Molybdenum cofactor deficiency (MCD) is a rare and ultimately fatal metabolic dis-ease that results in extensive neurodegeneration in early infancy. The causal association of MCD with sulfite oxidase deficiency, a known cause of subluxed lenses (ectopia ...
Meshaal A. Al-Obaidalla, Joyce N. Mbekeani, Mohammad Asif Dogar, Selwa A. Al Hazzaa   +3 more
doaj   +1 more source

Selenoprotein H Functions as a PPARα Coactivator to Link Selenium Homeostasis to Hepatic Lipid Metabolism and Protect against Steatohepatitis

Advanced Science, Volume 13, Issue 22, 17 April 2026.
Our study identifies selenium deficiency as a hallmark of MASH pathogenesis. Dietary selenium supplementation enhances hepatic fatty acid oxidation (FAO) and attenuates MASH progression by activating the PPARα pathway via selenoprotein H (SELENOH). This selenium‐SELENOH‐PPARα nexus redefines the functional scope of selenoproteins, moving from redox ...
Yuwei Zhang, Yuchen Wang, Binbin Li, Xin Li, Chenyu Liu, Yanhao Chen, Cheng Tian, Dongmei Wang, Xiaosong Gu, Chunping Jiang, Yuda Wei, Qiurong Ding   +11 more
wiley   +1 more source

The Phenotypic and Genotypic Features of ADAMTSL4‐Related Ocular Disease

Clinical Genetics, Volume 109, Issue 4, Page 730-741, April 2026.
ADAMTSL4‐related ocular disease tends to present at a younger age and be associated with higher myopia than other forms of ectopia lentis (such as FBN1). A previously reported 20‐bp deletion (c.767_786del) was highly prevalent in this cohort (23/32), and all ectopia lentis et pupillae cases carried this variant. ABSTRACT Pathogenic variants in ADAMTSL4
Katie M. Williams, Wolfgang Berger, Samuel Koller, Fatma Kivrak Pfiffner, Alessandro Maspoli, Jiradet Gloggnitzer, Britta V. T. Brühwiler, Christina Stathopoulos, Francis Munier, Louise Allen, Christos Iosifidis, Graeme C. Black, Panagiotis I. Sergouniotis, Ian Christopher Lloyd, Christina Gerth‐Kahlert   +14 more
wiley   +1 more source