Download full-text PDF |
Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC214052 | PMC |
| http://dx.doi.org/10.1136/bmj.327.7418.760 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Preclinical assessment of splicing modulation therapy for ABCA4 variant c.768G>T in Stargardt disease.
Commun Med (Lond)
January 2025
Department of Human Genetics, Research Institute for Medical Innovation, Radboud University Medical Center, Nijmegen, The Netherlands.
Background: Stargardt disease type 1 (STGD1) is a progressive retinal disorder caused by bi-allelic variants in the ABCA4 gene. A recurrent variant at the exon-intron junction of exon 6, c.768G>T, causes a 35-nt elongation of exon 6 that leads to premature termination of protein synthesis.
View Article and Find Full Text PDFAustralian Trachoma Surveillance Report update: 2014-2022.
Commun Dis Intell (2018)
January 2025
The Kirby Institute, UNSW Sydney, Australia.
Australia is the only high-income country where trachoma has been endemic, defined as an overall trachoma prevalence in Aboriginal and Torres Strait Islander children aged 5-9 years of 5% or more. The Australian Government funds the National Trachoma Surveillance and Reporting Unit to collate and analyse trachoma prevalence data and control strategies annually. This report presents data submitted from 2014 to 2022.
View Article and Find Full Text PDFReducing the risk of visual disability for children with juvenile idiopathic arthritis uveitis through disease surveillance: past and future challenges.
Pediatr Rheumatol Online J
January 2025
Hamburger Zentrum für Kinder- und Jugendrheumatologie, am Schön Klinik Hamburg Eilbek, Hamburg, Germany.
Childhood blindness significantly impacts development, education, employment, and mental health, creating burden for families and society. Between 8% and 30% of children with Juvenile Idiopathic Arthritis (JIA) develop a potentially blinding chronic inflammatory eye disease, uveitis (JIAU). Alongside the use of disease-modifying agents and anti-TNF immunomodulators, JIAU surveillance has helped to reduce the risk of JIAU related blindness.
View Article and Find Full Text PDFOnchocerciasis is not a major cause of blindness in two endemic villages in Sierra Leone.
BMC Res Notes
January 2025
Helen Keller International, New York, USA.
Objective: Sierra Leone, a country where onchocerciasis is endemic in 14 of the 16 districts, was the focus of our investigation. Despite 17 rounds of annual ivermectin treatment since 2005, a report circulated by a local politician indicated an increase in cases of suspected onchocerciasis-related vision impairment in two villages (Mangobo and Petifu) in Tonkolili district. In response, the National Neglected Tropical Disease Program conducted a comprehensive investigation.
View Article and Find Full Text PDFTorsion-Induced Traumatic Optic Neuropathy (TITON): A physiologically relevant animal model of traumatic optic neuropathy.
PLoS One
January 2025
Department of Biomedical Engineering, The Ohio State University, Columbus, OH, United States of America.
Traumatic optic neuropathy (TON) is a common cause of irreversible blindness following head injury. TON is characterized by axon damage in the optic nerve followed by retinal ganglion cell death in the days and weeks following injury. At present, no therapeutic or surgical approach has been found to offer any benefit beyond observation alone.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!