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Dr. Gearóid Tuohy

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.  

First quantitative choroidal assessment may be valuable for using other standard metrics for retinal clinical trial evaluations.

Researchers in Canada, have reported the first quantitative choroidal assessment in a cohort of patients with genetically characterized retinitis pigmentosa (RP). The results of the… Read More »First quantitative choroidal assessment may be valuable for using other standard metrics for retinal clinical trial evaluations.