Researchers based at the NEI’s Ophthalmic Genomics Laboratory, National Eye Institute, Bethesda, have reported anomalous TIMP3 variants with altering signal peptide function, distinct from classic Sorsby… Read More »Atypical TIMP3 defects may present a distinct disease mechanism of Sorsby Fundus Dystrophy.
A research team based at the Institute of Genetic Epidemiology, Medical University of Innsbruck, Austria, have shown that the relative telomere length (RTL) is associated… Read More »Relative telomere length (RTL) appears to be associated with age-related macular degeneration in women but not in men.
A research team based at the Faculty of Biology, Medicine and Health, University of Manchester, and the Manchester Royal Eye Hospital, NHS Foundation Trust, has… Read More »Early signs of age-related macular degeneration (AMD) may assist to treat patients before symptoms arise thereby interrupt the pathogenesis.
A research team based at the National Eye Institute, National Institutes of Health, Bethesda, Maryland, has published long-term visual outcomes for patients participating with an… Read More »A real-world study on an AI-enabled tele-monitoring project shows significant impact on long-term outcomes.
A research team based at the Rotterdam Eye Hospital, the University of Groningen and University Eye Clinic, Maastricht, has reported that idebenone (known as Raxone),… Read More »A national cohort study in the Netherlands have reported clinical outcomes of treatment with idebenone in Leber’s hereditary optic neuropathy (LHON)
An Italian consortium of clinical researches from fourteen institutes has reported a longitudinal natural history of RPE65-assocaited retinopathies. The report, led Dr. Francesco Testa at… Read More »A longitudinal natural history of RPE65-associated retinopathies in Italy showed specific genotype-phenotype characteristics
A research study, conducted in the Department of Mechanical Engineering and School of Optometry and Vision Science at the University of Auckland, New Zealand, has… Read More »A systematic review on electronic vision prostheses suggest several improvements on methodology in order to show benefit
A research study conducted in the Medical Genetics Program of Southwestern Ontario, London Health Sciences Centre, London, Canada has shown that there are a range… Read More »Perspectives from young adults with Leber congenital amaurosis (LCA) show complex factors when considering gene therapy and trial participation
A research study assessing patient and retina specialists’ preferences on the treatment of nAMD has shown a valuable comparison on specific measures. The “relative importance”… Read More »Preferences on neovascular age-related degeneration (nAMD) treatment shows clinicians and patients’ views on options
Dutch researchers at the Radboud University Medical Centre, Nijmegen, and ProQR Therapeutics, a company, based in Leiden, the Netherlands, are enrolling up to 200 patients… Read More »Phase 2/3 anti-sense treatment (”QR-421a”) of retinitis pigmentosa (RP) aims to use exon skipping within the USH2A gene to repair the shortened usherin protein.