Results 71 to 80 of about 57,511 (304)

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

American Journal of Medical Genetics Part A, EarlyView.
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

Optic disc vessel density in nonglaucomatous and glaucomatous eyes: an enhanced-depth imaging optical coherence tomography angiography study

Clinical Ophthalmology, 2018
Yuji Yoshikawa,1 Takuhei Shoji,1 Junji Kanno,1 Itaru Kimura,1 Masanori Hangai,2 Kei Shinoda1 1Department of Ophthalmology, Saitama Medical University, Saitama, Japan; 2Hangai Eye Institute, Saitama, Japan Purpose: To evaluate the ability of enhanced ...
Yoshikawa Y, Shoji T, Kanno J, Kimura I, Hangai M, Shinoda K   +5 more
doaj  

Ocular surface disease in glaucoma patients on topical medications and its relation to duration of treatment and number of medications

Journal of Clinical Ophthalmology and Research, 2022
Background: Topical antiglaucoma medications can alter the tear film and lead to ocular surface disease (OSD). Aim: This study was done to check for the presence of OSD in patients of glaucoma on topical antiglaucoma medications and to analyze the ...
Samruddhi N Chanekar, Ugam P S. Usgaonkar, Shekhar O Akarkar   +2 more
doaj   +1 more source

Structural Change Can Be Detected in Advanced-Glaucoma Eyes. [PDF]

, 2016
PurposeTo compare spectral-domain optical coherence tomography (SD-OCT) standard structural measures and a new three-dimensional (3D) volume optic nerve head (ONH) change detection method for detecting change over time in severely advanced-glaucoma (open-
Belghith, Akram, Bowd, Christopher, Girkin, Christopher A, Liebmann, Jeffrey M, Medeiros, Felipe A, Weinreb, Robert N, Zangwill, Linda M   +6 more
core   +2 more sources

Severe Hypotony After Glaucoma Filtering Surgery

, 2019
Purpose: To develop surgical tactic based on the results of treating severe hypotony after anti-glaucoma surgery. Patients and methods: A retrospective analysis of 28 eyes of 27 patients (11 females, 16 males) was held. Mean age of patients was 13 to 85 years (55±2). All the patients had severe[for full text, please go to the a.m. URL]
Ivanova, E, Ivanova, D
openaire   +2 more sources

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, EarlyView.
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

Central corneal thickness in primary angle closure and open angle glaucoma

Journal of Ophthalmic & Vision Research, 2014
Purpose: To quantitatively analyze central corneal thickness (CCT) in patients with primary angle closure glaucoma (PACG) and primary open-angle glaucoma (POAG), and to evaluate its correlation with severity of glaucoma.
Sasan Moghimi, Hamidreza Torabi, Hesam Hashemian, Heydar Amini, Shan Lin   +4 more
doaj   +1 more source

Magnetic Resonance Imaging of Optic Nerve Traction During Adduction in Primary Open-Angle Glaucoma With Normal Intraocular Pressure. [PDF]

, 2017
PurposeWe used magnetic resonance imaging (MRI) to ascertain effects of optic nerve (ON) traction in adduction, a phenomenon proposed as neuropathic in primary open-angle glaucoma (POAG).MethodsSeventeen patients with POAG and maximal IOP ≤ 20 mm Hg, and
Bonelli, Laura, Caprioli, Joseph, Clark, Robert A, Coleman, Anne L, Demer, Joseph L, Giaconi, JoAnn A, Law, Simon K, Nouri-Mahdavi, Kouros, Suh, Soh Youn   +8 more
core   +1 more source

The complexity of dementia development and its comorbidities: The collaborative cross‐mouse population for multivarious tasks approach

Animal Models and Experimental Medicine, EarlyView.
The increasing prevalence of dementia and related neurodegenerative diseases—including Alzheimer's disease, Parkinson's disease, multiple sclerosis, and amyotrophic lateral sclerosis—poses a growing public health challenge. These conditions have traditionally been studied as isolated central nervous system disorders, but emerging evidence points to ...
Osayd Zohud, Iqbal M. Lone, Kareem Midlej, Fuad A. Iraqi   +3 more
wiley   +1 more source

Evaluation and correlation of corneal endothelium parameters with the severity of primary glaucoma

Indian Journal of Ophthalmology, 2022
Purpose: To evaluate and correlate corneal endothelium parameters with the severity of primary glaucoma. Methods: This prospective case-control study was conducted on 150 eyes of 80 newly diagnosed primary open-angle glaucoma (POAG), chronic primary ...
Diksha Kang, Prempal Kaur, Karamjit Singh, Dinesh Kumar, Riya Chopra, Gaurang Sehgal   +5 more
doaj   +1 more source