Abstract
AbstractPurpose Until recently, genetic testing in retinal dystrophy has been limited to a small proportion of families. Next Generation Sequencing is now being developed within clinical laboratories to deliver genetic testing to a much greater number of families. Retinal dystrophy is a very heterogenous condition affecting 1 in 3,000 people, but with new NGS technology, we now estimate that mutations can be identified in around 60‐70% of families.Results Understanding the clinical utility and applicability of testing in the care and management of families will be very important. Research suggests that patients want genetic testing in order to confirm the inheritance pattern in the family, identify those at risk and to give hope of future gene‐based therapies in the future.Conclusion We report on our experience in the genetic eye clinic since the introduction of NGS testing, the impact on families and some of the complexities including the identification of de‐novo dominant mutations in sporadic cases as well as unexpected syndrome diagnoses.
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