Results 51 to 60 of about 3,283 (186)

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

Surgical management of bilateral isolated ectopia lentis – A case report

Indian Journal of Ophthalmology. Case Reports
A 28-year-old female presented with diplopia for 3 years. The patient was a high myope with best corrected visual acuity (BCVA) of 6/18, N6 in the right eye (RE) and 5/60, N36 in the left eye (LE).
Aaliya Ambereen, Nivean Madhivannan, Pratheeba D Nivean, Sangeetha Sekaran, Madhivannan Natarajan   +4 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

Outcomes of Iris-Claw IOL Implantation in Patients with Marfan’s Syndrome in Jordan

Clinical Ophthalmology, 2022
Rami A Al-Dwairi,1 Wisam A Shihadeh,1 Asem A Alqudah,1 Noor M Alqudah,1 Mohammed Msallam,2 Firas Alrazem,1 Sarah Alshamarti,1 Zaki Shannak,1 Mohammad Abueid,1 Abdelwahab Aleshawi1 1Department of Special Surgery, Division of Ophthalmology, Faculty of ...
Al-Dwairi RA, Shihadeh WA, Alqudah AA, Alqudah NM, Msallam M, Alrazem F, Alshamarti S, Shannak Z, Abueid M, Aleshawi A   +9 more
doaj  

Bilateral Implantation of Scleral-Fixated Cionni Endocapsular Rings and Toric Intraocular Lenses in a Pediatric Patient with Marfan’s Syndrome

Case Reports in Ophthalmology, 2012
The management of ectopia lentis in Marfan’s syndrome is challenging. Multiple disease-associated factors conspire to deprive these patients of adequate vision.
Howard V. Gimbel, Gerardo D. Camoriano, Muhammad Aman-Ullah   +2 more
doaj   +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

A Homozygous Mutation in ADAMTSL4 Causes Autosomal-Recessive Isolated Ectopia Lentis

, 2009
Ectopia lentis is a genetically heterogeneous condition that is characterized by the subluxation of the lens resulting from the disruption of the zonular fibers.
Tayeh, Marwan, Ahram, Dina, Sato, T. Shawn, El-Shanti, Hatem, Al-Salem, Mahmoud, Chen, Shan, Leal, Suzanne, Kohilan, Abdulghani   +7 more
core   +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

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

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