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Raising IRD awareness

A collaborative programme aims to keep inherited retinal disease patients up to date on their condition

Roibeard O’hEineachain

Posted: Sunday, September 1, 2019

Providing inherited retinal disease (IRD) patients with the most up-to-date knowledge on their condition and their own disease status can enable them to make fully informed decisions on which style of management will suit them best, according to Ms Aoife Mary Long, Retina Research Group, Mater University Hospital, Dublin, Ireland on behalf of Target 5000 (Fighting Blindness).
“There is often a lack of awareness amongst IRD patients and professionals of all the resources, supports and therapies available to them. Modern clinical management involves patients in decision-making and a collaborative method of communicating available options must be considered,” Ms Long told the Annual Conference of the Irish College of Ophthalmologists in Galway, Ireland.
Ms Long and her associates in the IRD clinics at the Mater have created care-plan templates to optimise communication between healthcare teams and patients affected by IRDs. The format provides patients with information on their condition as well as any relevant treatments and information on services available for low vision.
“Our aim is to create a care plan template that can be individualised, along with a database of general and gene-specific IRD clinical trials and clinical trials on interventions for associated comorbidities,” Ms Long said.
To create the care-plan formats, Ms Long and associates recruited patients with Stargardt’s Disease, USH1B and X-Linked retinoschisis from participants in Target 5000, the Irish National IRD registry. They determined their phenotypes using clinical history, ophthalmic exam, colour photography fundus autofluorescence OCT and functional testing. The patients were genotyped using next-generation sequencing at the School of Genetics, Trinity College, and accredited testing was performed at the Manchester Centre for Genomic Medicine, Manchester, UK. Results were relayed to patients via the Mater’s Target 5000 Genetic Counselling service.
Ms Long and associates then conducted literature reviews on the condition including research into its history, as well as current information on clinical trials and established therapies and therapeutic possibilities. The draft was subject to further review and discussion by a focus group including patients, patients’ relatives, advocates, geneticists, genetic counsellors, clinicians and scientists.
“This format can attempt to provide transparent information in an era of overwhelming and often conflicting data. It should help manage patient expectations in a clear, unambiguous manner while informing on the hope for upcoming therapies,” Ms Long added.

Aoife Mary Long: aoifemarylong@rcsi.ie