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....
Age range
10 Years – 100 Years
Sex
ALL
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Growth rate in square root area of loss of the inner segment/outer segment band (EZband)
Timeframe: Day 1, 182, 364, 728, 1,092
Growth rate of square root area of atrophy measured from short-wavelength autofluorescence
Timeframe: Day 1, 182, 364, 728, 1,092