Researchers at the Department of Human Genetics, Radboud University Medical Centre, Nijmegen, the Netherlands, have reported a limited study for three probands showing that biallelic… Read More »A small study of severe variants of ABCA4 reports a new genotype–phenotype correlation with Early-Onset Severe Retinal Dystrophy (EOSRD).
Researchers at the Department of Ophthalmology and Visual Sciences, University of British Columbia, Canada, have reported the first example of a beta-tubulin 4B gene variant… Read More »First report of a beta-tubulin 4B gene variant (TUBB4B) with RP, late-onset and progressive sensorineural hearing loss.
Researchers based in the Institute of Ophthalmology, University College London, and Moorfields Eye Hospital, London, UK have presented a deep learning model – “Eye2gene” –… Read More »Eye2Gene performance of genetic diagnosis showed better results from any single human ophthalmic expert.
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.
