Results 51 to 60 of about 13,900 (225)

Nance‐Horan Syndrome: Further Delineation of the Affected Male and the Female Carrier Phenotypes

American Journal of Medical Genetics Part A, Volume 200, Issue 3, Page 642-652, March 2026.
ABSTRACT Nance‐Horan syndrome (NHS; OMIM 302350) is a rare, X‐linked syndrome characterized by bilateral congenital cataracts leading to profound vision loss, specific dental anomalies including characteristic screwdriver blade‐shaped incisors, facial anomalies, and intellectual disability.
Maria K. Haanpää, Chad R. Haldeman‐Englert, Marja Hietala, Melisa S. Tanverdi, Patrick P. Koty, Diana Brightman, Eniolami Dosunmu, Shailja Tibrewal, Savleen Kaur, Anupriya Kaur, Raj Kumar Verma, Alejandra G. de Alba Campomanes, Virginia Utz, Anne M. Slavotinek, Cynthia Curry   +14 more
wiley   +1 more source

Changes in the thickness of the macular ganglion cell complex and retinal nerve fiber layer over time after surgery in a case of juvenile glaucoma

American Journal of Ophthalmology Case Reports, 2016
Purpose: To report longitudinal changes over time after surgery in the topography of the optic disc, thickness of the circum papillary retinal nerve fiber layer (c-RNFL), and thickness of the macular ganglion cell complex (m-GCC) in a case of juvenile ...
Seiji Takagi, Goji Tomita
doaj   +1 more source

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

Nanostructured drug delivery systems for posterior segment eye diseases: Strategies to defy ocular barriers

BMEMat, Volume 4, Issue 1, March 2026.
Efficient drug delivery to the posterior segment of the eye has long been a challenging issue due to the complex ocular barriers. The review focuses on the promise held by nanoplatforms for barrier penetration and the key mechanisms involved, also highlighting their advantages in achieving efficient drug delivery and superior treatment of PSEDs ...
Yifan Shen, Ying Yao, Yan Zhang, Xinyu Shi, Ling Bai, Yang Zhong, Yan Zhang, Kun Zhang   +7 more
wiley   +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

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

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

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