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.
Researchers at the Gavin Herbert Eye Institute, Department of Ophthalmology, University of California, Irvine, has reported an experimental treatment using a CRISPR/Cas9 adenine base editing… Read More »Autosomal-recessive retinitis pigmentosa (arRP) – a mutation (E150K) of rhodopsin may provide a CRISPR treatment with functional and structural rescue.
A team of Korean researchers have published a study using an AI-model of optical coherence tomography (OCT) image data to predict AMD treatment outcomes following… Read More »Korean research team provide an Artificial intelligence (AI) tool for predicting the treatment response of nAMD based on OCT biomarkers.
Researchers at the Department of Ophthalmology, and the Center for Visual Science, University of Rochester, New York, have reported a study using induced pluripotent stem… Read More »A novel induced pluripotent stem cell model shows a mechanistic defect and potential therapy for AMD and related macular dystrophies.
Researchers at the Ophthalmic Genetics and Visual Function Branch, National Eye Institute, Bethesda, Maryland, USA have reported a genetic association between UBAP1L variants and retinal… Read More »A novel IRD candidate gene, UBAP1L, provides a loss-of-function causing macular, cone and cone-rod dystrophy.
Researchers at the University of New South Wales, Sydney, Australia, have reported a new study indicating that RPE curvature may provide a promising quantitative outer… Read More »A new research study on RPE curvature may provides a promising quantitative biomarker for late AMD.
Researchers at UCL Institute of Ophthalmology, University College London, and Moorfields Eye Hospital NHS Foundation Trust, UK, have reported a study on CNG3A-associated achromatopsia (ACMH),… Read More »CNGA3-associated ACHM displays stable foveal cone structure over time, presenting an attractive therapeutic opportunity for treatment.
