An Observational Prospective Natural History Study of Stargardt-like Macular Dystrophy (STDG3) Secondary to Mutations in ELOVL4
National Eye Institute (NEI)
Summary
Background: STDG3 is an inherited eye disease. Currently there is no treatment for STDG3. Past studies of STDG3 have largely looked at members of large families at a single time point. Researchers want to learn more about the disease at an individual level. Objective: To understand the natural history of changes in the retina that occur in people with STDG3. Eligibility: People ages 10 and older with STDG3 due to a variant in the ELOVL4 gene. Design: Participants will have 6 visits. First they will have a screening visit, followed by a baseline visit. Then they will have a visit 6 months later. Then they will have a visit 1, 2, and 3 years after the first visit. Visits will last 4 to 8 hours. Visits will include the following: Medical history and physical exam. Complete eye exam. Participants' eye pressure and ability to see letters on a vision chart will be tested. Their pupils will be dilated with eye drops. Pictures will be taken of the retina and the inside of the eye. Questions about participants' family history, especially the presence of eye disease. Visual field test. Participants will be seated in front of a large dome and asked to press a button when they see a light within the dome. Electroretinogram. Participants will sit in the dark with their eyes patched for 30 minutes. Then they will wear special contact lenses and watch flashing lights. Optical coherence tomography. Cross-sectional pictures will be taken of participants' retinas. Fundus autofluorescence. Blue light will be shone into participants eyes to assess the health of the retina....
Description
Title: An Observational Prospective Natural History Study of Stargardt-like Macular Dystrophy (STDG3) Secondary to Mutations in ELOVL4 Study Description: Potential therapeutics for Stargardt-like macular dystrophy (STDG3) have been proposed. Cross-sectional studies of large families suggest progressive macular atrophy in STDG3 but there is a paucity of longitudinal data for these patients. The overall goal is to establish a natural history study of STDG3. Objectives: The primary objective is to assess the longitudinal changes in retinal structure in STDG3 patients. The secondary objective i…
Eligibility
- Age range
- 10–100 years
- Sex
- All
- Healthy volunteers
- No
* INCLUSION CRITERIA: To be eligible, the following inclusion criteria must be met, where applicable. 1. Stated willingness to comply with all study procedures and availability for the duration of the study. 2. Participant must be at least ten years of age. 3. Ability to perform required functional testing and ophthalmic imaging. 4. A mutation in ELOVL4 with a typical clinical presentation of Stargardt-like macular dystrophy. 5. Participant (or legal guardian) must understand and sign the protocol s informed consent document. EXCLUSION CRITERIA: A participant is not eligible if any of the…
Location
- National Institutes of Health Clinical CenterBethesda, Maryland