The team investigated outcome of genetic testing in 201 preschool children with inherited eye disorders, including 59 with retinal disease. Overall, testing was remarkably impactful: it provided a definitive diagnosis in 2 out of 3 cases (diagnostic yield in IRD was 78%), and led to changes in clinical management in one third of children studied. Of particular note in the IRD cohort was the identification of potential syndromic disorders in children previously diagnosed with retinal disease only, instigating ongoing monitoring for the appearance of non-ophthalmic symptoms. For several families, there was also clarification of prognosis, with some tests revealing that the child’s disorder was stationary rather than progressive.
The 2019 community survey conducted by Retina UK revealed that a significant number of families are either unaware of the availability of genetic testing or struggle to access it. This year, we will be working hard on an information campaign aiming to increase understanding of the benefits of testing and empower families to access the choices it provides. We would be very grateful for the support of our professional community in sharing our new printed and digital materials. Watch this space for more information.
Read the full article: https://www.nature.com/articles/s41436-019-0722-8