Skip to content

Featured

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 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).

Clinical study of >3,500 IRD patients reports novel genotype-phenotype associations using optical coherence tomography (OCT) imaging.  

Clinical researchers at the Institute of Ophthalmology, University College London, UK, and Moorfields Eye Hospital NHS Foundation Trust, London, have presented a novel deep learning… Read More »Clinical study of >3,500 IRD patients reports novel genotype-phenotype associations using optical coherence tomography (OCT) imaging.