Researchers based in Moorfields Eye Hospital, NHS Foundation Trust, London, have presented the first genome-wide association study (GWAS) results involving reticular pseudodrusen (RPD). The study’s… Read More »First genome-wide association study (GWAS) on reticular pseudodrusen (RPD) provides a clear relationship between RPD and the ARMS2-HTRA1 locus.
Mr. Robert F. Kennedy Jr., United States Secretary of Health & Human Services (HHS), has stated that government scientists who publish in a number of… Read More »Research published in The Lancet, the New England Journal of Medicine, and the Journal of the American Medical Association may be barred by the US Department of Health & Human Services (HHS).
Researchers at the University College London, Institute of Ophthalmology, and Moorfields Eye Hospital, NHS Foundation Trust, UK, reported a study indicating that large disparities of… Read More »A research survey is the first to evaluate patient perspectives and considerations regarding the application of AI in the diagnosis of IRDs.
Researchers at the Institute for Molecular Medicine Finland (FIMM), University of Helsinki, and the Massachusetts Eye and Ear and Broad Institute of MIT and Harvard,… Read More »New study on a genome-wide association of central serous chorioretinopathy (CSC), varicose veins and glaucoma identifies a missense variant in PTPRB gene.
Clinical researchers at the Department of Ophthalmology and Johnson Retina Centre, University of Washington, Seattle, have reported on the clinical characteristics, natural history, genetic landscape,… Read More »Research provides new insight into how individual genotypes can influence phenotypic features in neuronal ceroid lipofuscinosis (NCL)-associated retinal disease.
Researchers at the Department of Genetics, and the Department of Ophthalmology, Harvard Medical School, Boston, have reported a novel gene-agnostic strategy treating retinitis pigmentosa (RP),… Read More »Novel research on a gene-agnostic strategy to treat RP aims to improve cone cell survival and extend vision.
Researchers at the Institute of Molecular and Clinical Ophthalmology Basel (IOB), Switzerland, and the Centre for Medical Genetics, Ghent University, Belgium, have reported results of… Read More »A specific form of macular degeneration (MD) has uncovered three novel genetic variants encoding an adaptor protein (AP-5) complex, essential for macular function.
Researchers at the Department of Optometry and Vision Sciences, and the Ophthalmology Department of Surgery, based in the University of Melbourne, Australia, has reported results… Read More »Variability disease in female carriers of RPGR variants show clinical and genetic parameters in XLRP.
Researchers at the Biosciences Institute, Newcastle University, UK, have reported results from a study on differentiated retinal organoids derived from Stargardt disease patients (STGD1). The… Read More »New research on retinal organoids provide valuable insights on genotype and phenotype correlations in Stargardt disease (STGD1).
Researchers at the Eye Centre, Zhejiang University School of Medicine, Hangzhou, China, have reported a novel truncating mutation in the RP1 gene (retinitis pigmentosa 1),… Read More »Research on autosomal dominant retinitis pigmentosa (adRP) has reported a novel RP1 truncating mutation, not previously reported in the literature.
