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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 PDFIntroduction: A population-based survey of the prevalence and causes of blindness and vision impairment among people 50 years and older living in the State of Qatar.
Methods: A Rapid Assessment of Avoidable Blindness (RAAB) methodology, applied from May 2022 to June 2023, utilized stratified two-stage cluster random sampling to select 5060 persons 50 years and older resident in Qatar from 145 communities chosen by probability proportional to size. Communities were stratified by Qatari and non-Qatari nationality.
Research on the Anxiety and Depression of Patients with Mechanical Ocular Injuries: A Cross-Sectional Study.
Psychol Res Behav Manag
January 2025
Department of Ophthalmology, Tianjin Medical University General Hospital, Tianjin, 300052, People's Republic of China.
Purpose: The present study aimed to investigate the prevalence of anxiety and depression in patients with mechanical ocular injuries, and the effects of worry and resilience on anxiety and depression.
Patients And Methods: Patients with one eye of mechanical ocular injuries and healthy residents were recruited from June 8, 2022, to March 1, 2023. All subjects participated in psychologically relevant questionnaires including the Self-rating Anxiety Scale(SAS), the Self-rating Depression Scale(SDS), the Connor- Davidson Resilience Scale (CD-RISC), and the Penn State Worry Questionnaire(PSWQ).
Reducing 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.
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