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Dr. Gearóid Tuohy

An analysis of the mutation spectrum for IRDs provides 20 further novel variants, including 6 variants showing pathogenic alterations.

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.

Real-world impacts of an observational study on X-linked retinitis pigmentosa (XLRP) patients’ experience, supported by the ERN-EYE Network.

Researchers at the Department of Translational Medicine, University of Ferrara, Italy, and colleagues in the ERN-EYE Network, have published paper on the first study to… Read More »Real-world impacts of an observational study on X-linked retinitis pigmentosa (XLRP) patients’ experience, supported by the ERN-EYE Network.

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 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.