Research

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.

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.