Results 61 to 70 of about 503,985 (221)

EFEMP1 rare variants cause juvenile-onset open angle glaucoma in families from the Philippines

, 2021
Juvenile open angle glaucoma (JOAG) is a severe type of glaucoma with childhood onset and dominant inheritance. Using exome sequencing we identified 3 independent families from the Philippines with rare EFEMP1 variants (c.238A>T, p.Asn80Tyr; c.1480T>C p ...
E. Collantes, M. Delfín, B. Fan, J. Torregosa, Christine Siguan-Bell, N. Florcruz, J. Martinez, B. Masna-Hidalgo, V. Guzman, J. Anotado-Flores, F. Levina, S. Hernandez, Anthony A Collantes, Michael Sibulo, S. Rong, J. Wiggs   +15 more
semanticscholar   +1 more source

Tubulointerstitial nephritis and uveitis syndrome in children: What to keep an eye on

Acta Ophthalmologica, Volume 104, Issue 4, Page e443-e452, June 2026.
Abstract Purpose The purpose of this study was to determine the disease course in patients with tubulointerstitial nephritis and uveitis (TINU) syndrome, focusing on long‐term outcome and the incidence of complications such as chronic kidney disease (CKD).
Jytte Hendrikse, Anne Sina Paula Simon, Viera Kalinina Ayuso, Joke Helena de Boer, Gerrit van den Berg   +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

FOXC1 modulates MYOC secretion through regulation of the exocytic proteins RAB3GAP1, RAB3GAP2 and SNAP25.

PLoS ONE, 2017
The neurodegenerative disease glaucoma is one of the leading causes of blindness in the world. Glaucoma is characterized by progressive visual field loss caused by retinal ganglion cell (RGC) death.
Alexandra Rasnitsyn, Lance Doucette, Morteza Seifi, Tim Footz, Vincent Raymond, Michael A Walter   +5 more
doaj   +1 more source

Yield of Whole Genome Sequencing for Pathogenic Single Nucleotide Variants in Congenital Heart Disease: A Systematic Review and Meta‐Analysis

Prenatal Diagnosis, Volume 46, Issue 5-6, Page 780-818, May 2026.
ABSTRACT Objective This systematic review and meta‐analysis aimed to assess the diagnostic yield of pathogenic or likely pathogenic (P/LP) single nucleotide variants (SNVs) using whole genome sequencing (WGS) in congenital heart disease (CHD). Methods A systematic search of three databases (2000–2024) was conducted, and two reviewers independently ...
Hiba J. Mustafa, Parisa Najjariasl, Faezeh Aghajani, Enaja V. Sambatur, Andrew Rodenbarger, Stephanie Guseh, Amy E. Roberts, Alireza A. Shamshirsaz   +7 more
wiley   +1 more source

Espesor corneal central en el glaucoma juvenil Central corneal thickness in juvenile glaucoma

Revista de Ciencias Médicas de Pinar del Río, 2012
Introducción: el glaucoma juvenil es una variedad poco común y sus manifestaciones clínicas pueden simular un glaucoma primario de ángulo abierto. Objetivo: evaluar el comportamiento del espesor corneal central en el glaucoma juvenil.
Maykel Rivera López, Yanet García Concha, Henry Pérez González, Sandra Jalilo Hernández   +3 more
doaj  

Carrier screening in the reproductive setting—Are there medical implications for the heterozygote?—A guide for clinicians

Pregnancy, Volume 2, Issue 3, May 2026.
Abstract Carrier screening for genetic conditions performed preconception or during pregnancy allows identification of fetal risk for inherited autosomal recessive and X‐linked conditions. The goal is to identify at‐risk patients/couples and offer them reproductive options such as preimplantation genetic diagnosis, prenatal testing, or targeted newborn
Emily B. Rosenfeld, Nicole Kasatkin, Bi Liu Yu, Milen Velinov, Justin S. Brandt, Elena Ashkinadze   +5 more
wiley   +1 more source

The Southern California Healthcare Delivery Science Center: A Model for Aligning Patients, Healthcare Systems, and Researchers to Develop, Test, and Disseminate Innovations to Achieve Health Equity

Learning Health Systems, Volume 10, Issue 2, April 2026.
ABSTRACT Introduction A key barrier to translating evidence into practice is the paucity of learning health system (LHS) researchers elucidating and addressing barriers to implementation and maintenance. Methods In response to the growing need for a workforce dedicated to translating evidence into practice, we developed the Southern California ...
Amytis Towfighi, Aidan R. Lindgren, Thomas A. Buchanan, Hal F. Yee Jr, Allison Orechwa   +4 more
wiley   +1 more source

Intraoperative Mytomycin C in complicated glaucomas

Indian Journal of Ophthalmology, 1993
Filtering surgery has been found to be less successful in certain types of glaucoma. These include young patients, those with pigmentary glaucoma, secondary glaucoma, angle recession glaucoma, aphakic or pseudophakic glaucoma, and patients requiring ...
Singh Gurdeep, Kaur Jagmeet, Dogra Ajay
doaj  

Exploring the Genetic Landscape of Childhood Glaucoma

Children
Childhood glaucoma, a significant cause of global blindness, represents a heterogeneous group of disorders categorized into primary or secondary forms.
Yang Pan, Takeshi Iwata
doaj   +1 more source