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

National Eye Institute

Investigators

Abstract

Due to COVID-19 restrictions, for much of the review period, we were unable to implement the recruitment plan approved by the ICRRC on June 19, 2020. However, with the lifting of clinical center restrictions we were able to enroll our first patient in April, 2022. The participant completed all functional testing and imaging required. The participant will return for her first follow-up visit in September. As STDG3 is an autosomal dominant disease we have been in discussion with other family members about visiting NIH for evaluation and possible enrollment in the study. We have identified a further STDG3 patient that was seen at the NEI some 10 years ago. We plan to reach out to this patient about the study with a view to possibly also identifying other affected family members.