"Genetic and clinical findings in an ethnically diverse retinitis pigmentosa cohort associated with pathogenic variants in EYS".
Olivia CundySuzanne BroadgateStephanie HalfordRobert E MacLarenMorag E ShanksPenny CloustonMichael James GilhooleySusan M DownesPublished in: Eye (London, England) (2020)
The marked variability in severity and age of onset in most patients in this ethnically diverse cohort adds to growing evidence that that mild phenotypes are associated with EYS variants. Similarly, the two atypical cases add to the growing diversity of EYS disease as do the six novel pathogenic variants described.