An Observational Prospective Natural History Study of Stargardt-like Macular Dystrophy (STDG3) Secondary to Mutations in ELOVL4

National Eye Institute

Investigators

Abstract

One patient with Stargardt-like Macular Dystrophy 3 (STDG3) has been enrolled. Since the study started, we have identified three families with reported variants in ELOVL4. Genetic testing in all three families was completed over 10 years ago. As a result, none of the participants have been tested for mutations in other Stargardt genes (ABCA4, PROM1, PRPH2) that are listed as exclusion criteria. We have worked with participants from each family to collect saliva samples remotely for genetic analysis. Five participants have now been confirmed to not have the mutations in the other Stargardt genes. Multiple members from one family are now scheduled for enrollment in the coming months. One participant from a second family has also expressed interest in the study but we have been unable to schedule this patient. Genetic results from a member from a third family did not confirm a mutation in ELOVL4 and therefore, cannot be enrolled in this study.