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Protocol Details

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

This study is currently recruiting participants.

Summary | Eligibility | Citations | Contacts




Sponsoring Institute

National Eye Institute (NEI)

Recruitment Detail

Type: Participants currently recruited/enrolled
Gender: Male & Female
Min Age: 10 Years
Max Age: 100 Years

Referral Letter Required


Population Exclusion(s)

Adults who are or may become unable to consent


Oral Metformin;
Natural History

Recruitment Keyword(s)



Stargardt-Like Macular Dystrophy

Investigational Drug(s)


Investigational Device(s)




Supporting Site

National Eye InstituteNational Cancer Institute


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.


To understand the natural history of changes in the retina that occur in people with STDG3.


People ages 10 and older with STDG3 due to a variant in the ELOVL4 gene.


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.

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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.


A participant is not eligible if any of the following exclusion criteria are present.

1. Two or more definitive mutations in ABCA4 and/or one mutation in RDS/peripherin or PROM1.

2. Systemic medical contraindications that are rarely associated with ELOVL4 (e.g., Spinocerebellar Ataxia-34).

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Not Provided

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Principal Investigator

Referral Contact

For more information:

Brett G. Jeffrey, Ph.D.
National Eye Institute (NEI)
National Institutes of Health
Building 10
Room 10C442
10 Center Drive
Bethesda, Maryland 20892
(301) 402-2391

Daniel W. Claus, R.N.
National Eye Institute (NEI)
National Institutes of Health
Building 10
Room 10D45
10 Center Drive
Bethesda, Maryland 20892
(301) 451-1621

Office of Patient Recruitment
National Institutes of Health Clinical Center (CC)
Building 61, 10 Cloister Court
Bethesda, Maryland 20892
Toll Free: 1-800-411-1222
Local Phone: 301-451-4383
TTY: TTY Users Dial 7-1-1

Clinical Trials Number:


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