Results 51 to 60 of about 13,831 (228)

Image database system for glaucoma diagnosis support [PDF]

, 2008
Tato práce popisuje přehled standardních a pokročilých metod používaných k diagnose glaukomu v ranném stádiu. Na základě teoretických poznatků je implementován internetově orientovaný informační systém pro oční lékaře, který má tři hlavní cíle.
Peter, Roman
core  

Non‐RASopathy Genetic Syndromes Identified as the Molecular Cause of Disease in Patients Previously Diagnosed With Noonan Syndrome

American Journal of Medical Genetics Part A, Volume 200, Issue 3, Page 661-672, March 2026.
ABSTRACT Noonan Syndrome (NS) is a clinically and genetically heterogeneous condition characterized by typical facial dysmorphisms, short stature, congenital heart defects, and developmental delays. While variants in genes such as PTPN11, SOS1, and RAF1 account for most genetically confirmed cases, diagnosis is challenging due to phenotypic overlap ...
Gabriela Jeesoo Kim, Alexsandra Christianne Malaquias, Debora Romeo Bertola, Raissa Carneiro Rezende, Laurana De Polli Cellin, Lucas Vieira Lacerda Pires, Ana Maria Santillan‐Vasconez, Antônio Marcondes Lerario, Renata da Cunha Scalco, Alexander Augusto de Lima Jorge   +9 more
wiley   +1 more source

Predictive genetic testing experience for myocilin primary open-angle glaucoma using the Australian and New Zealand Registry of Advanced Glaucoma [PDF]

, 2014
Author version made available in accordance with publisher copyright policy.Purpose: Predictive genetic testing of relatives of known myocilin (MYOC) gene mutation carriers is an appropriate strategy to identify individuals at risk for glaucoma. It is
Burdon, Kathryn Penelope, Craig, Jamie E, Glading, Jodi, Keane, Miriam Claire, Ridge, Bronwyn, Souzeau, Emmanuelle, Zhou, Tiger   +6 more
core   +1 more source

Mydriasis as a Secondary Effect in Patients With HLA‐B27–Associated Uveitis

Medicine Advances, Volume 4, Issue 1, Page 12-19, March 2026.
HLA‐B27‐associated acute anterior uveitis causes significant inflammation of the iris and anterior chamber, which disrupts normal parasympathetic control and results in increased sympathetic tone leading to pupil dilation (mydriasis). This finding can sometimes resemble herpetic uveitis, making a clinical context and careful evaluation crucial for ...
Saim Mahmood Khan, Menahil Faheem Siddiqui, Syeda Areesha Shoaib, Surraiya Riaz Mahmood Khan, Jawairya Muhammad Hussain, Syeda Faiqa Batool, Hudda Amjad   +6 more
wiley   +1 more source

A Novel Homozygous Nonsense Pathogenic Variant of the CPAMD8 Gene Associated With Congenital Microcoria

Clinical Genetics, Volume 109, Issue 3, Page 571-575, March 2026.
A novel CPAMD8 nonsense mutation c.2679C>G (p.Tyr893*) was identified in a patient with congenital microcoria, leading to reduced mRNA expression and predicted protein truncation. ABSTRACT Congenital microcoria (MCOR) is a rare inherited ocular disorder. Here, we describe a novel nonsense variant in the CPAMD8 gene in a patient with MCOR.
Jing‐Fan Gao, Xin Jin, Jing‐Rao Wang, Shu Wang, Hong Zhang   +4 more
wiley   +1 more source

Anisohypermetropia as a sign of unilateral glaucoma in the pediatric population

International Medical Case Reports Journal, 2017
Deborah KL Tan,1,2 Gillian H Teh,2,3 Ching Lin Ho,2,4 Boon Long Quah1,2 1Department of Paediatric Ophthalmology and Adult Strabismus, Singapore National Eye Centre, 2Singapore Eye Research Institute, 3Department of General Cataract and Comprehensive ...
Tan DKL, Teh GH, Ho CL, Quah BL
doaj  

Juvenile glaucoma simulating progressive myopia

Indian Journal of Ophthalmology, 1959
Somerset E
doaj   +1 more source

Profile of childhood glaucoma at a tertiary center in South India

Indian Journal of Ophthalmology, 2019
Purpose: To describe the prevalence of various types of childhood glaucomas, their clinical features and treatment methods. Methods: We prospectively included consecutive children with glaucoma presenting to glaucoma clinic for the first time between ...
Sirisha Senthil, Swathi Badakere, Jonnadula Ganesh, Rashmi Krishnamurthy, Siddharth Dikshit, Nikhil Choudhari, Chandrasekhar Garudadri, Anil K Mandal   +7 more
doaj   +1 more source

Jefferson Digital Commons quarterly report: January-March 2020 [PDF]

, 2020
This quarterly report includes: New Look for the Jefferson Digital Commons Articles COVID-19 Working Papers Educational Materials From the Archives Grand Rounds and Lectures JeffMD Scholarly Inquiry Abstracts Journals and Newsletters Master of Public ...
Copeland, LIBT, James, Duinkerken, MSI, Kelsey, Gordon, MSLIS, MEd, MA, Larissa   +2 more
core   +1 more source

An Ex Vivo Morphometric Study of the Feline Corneal Endothelium (100 Eyes)

Veterinary Ophthalmology, Volume 29, Issue 2, March 2026.
ABSTRACT Background The feline corneal endothelium plays a critical role in maintaining corneal clarity, yet little is known about its baseline morphology and age‐related changes. This study aimed to assess endothelial morphology ex vivo using a vital dye‐based imaging technique, offering a practical tool for assessing endothelial health in settings ...
Yamit Soueid, Netta Cremer, Noya Aharon, Bar Fruchter, Lionel Sebbag   +4 more
wiley   +1 more source