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.
Researchers at the Department of Pathology, University of Oklahoma Health Sciences Centre, USA, have reported a study expanding on the mutation spectrum for inherited retinal… Read More »An analysis of the mutation spectrum for IRDs provides 20 further novel variants, including 6 variants showing pathogenic alterations.
Researchers at the Department of Paediatrics, Emma Children’s Hospital, Amsterdam UMC and University of Amsterdam, The Netherlands, have reported a research study on the phenotype,… Read More »Insights of gyrate atrophy of the choroid and retina (GACR) study published by the University of Amsterdam.
Researchers at the Department of Ophthalmology, Faculty of Medicine Siriraj Hospital, Mahidol University, Thailand, have reported a D126G missense mutation in the RS1 gene, causing… Read More »The D126G mutation in RS1 gene, causing X-linked juvenile retinoschisis (XLRS), shows the highest prevalence of the disorder in a Thailand study.
