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February 11th, 2018: “EURETINA-Brief”© Issue No. 170


by Dr. Gearóid Tuohy


Dear EURETINA Members,


A very warm welcome to the February 11th, 2018 edition of EURETINA’s web-based digital magazine, “EURETINA Brief”. EURETINA are delighted to continue our delivery of up-to-date summary briefs on a range of topics of interest to retinal clinicians, specialists and researchers across Europe. This resource is designed to accommodate the very busy schedules of all our members by providing them with a short overview of some new developments and announcements in our field over recent weeks.


As in previous issues we have incorporated a feedback section where you can comment on any of the news items or articles under discussion and we very much welcome all contributions. Previous articles and issues can be found in the archive section on this website.


The current issue highlights a number of research activities, clinical / regulatory milestones and business developments in our field, including a report of research from a combined German and US study where stem cell researchers have characterized the RPE maturation processes required in order to maximise potential of transplanted cells for future stem cell trials; publication of the results of a 12 year South Korean clinical study of retinal vein occlusion (RVO) in patients showing an increased risk of the disease in patients with end stage renal disease, and; in the commercial sphere, an announcement that Novartis AG (NYSE: NVS; SIX: NOVN) has attained ex-US rights to develop and commercialize a new gene therapy treatment (Luxturna), indicated for forms of Leber’s congenital amaurosis (LCA). The treatment has yet to secure regulatory approval in ex-US jurisdictions.


Finally, our feature bio-ophthalmology article reports on the recent genomics success by investigators based at the Department of Genetics & Microbiology, University of Barcelona, Spain, who have shown that whole exome sequencing (WES) continues to provide efficient returns in the identification of the genetic diagnosis for a range of inherited retinal disorders. The Spanish research group worked on a cohort of 33 families with a variety of retinal disorders and used WES to define a genetic diagnosis in 18 families while proposing a viable candidate gene in a further 10 cases. Two thirds of the mutations identified were described as novel and included 4 chromosomal rearrangements. In addition, the results obtained prompted a clinical re-evaluation of some patients resulting in a change of diagnosis from a non-syndromic inherited retinal degeneration to a syndromic diagnosis. Four new candidate genes for non-syndromic pathologies were also identified including SEMA6B, CEP78, CEP250 and SCLT1.


As always, increased interaction by you with the EURETINA web community serves to expand your professional network and keep you up to date with the latest initiatives, activities and research in your field. Our hope is that such cross-fertilisation in an active web-based platform, including our LinkedIn page, will lead to increased collaborative opportunities and ultimately to improved patient care. All readers are invited to submit comments or responses to any of the stories featured and we look forward to hearing from you over the coming month.


Best wishes,

Dr. Gearóid Tuohy, EURETINA