An observational study in Genotype and Retinal Disease, sponsored by National Eye Institute (NEI). Recruiting at 1 site in United States. Open to participants aged 18 Years to 120 Years. Per ClinicalTrials.gov, last updated 2026-11-09.
Sponsored by National Eye Institute (NEI) · Observational
Background:
- Plaquenil (hydroxychloroquine) is an anti-inflammatory drug that is used to treat some autoimmune diseases such as lupus and rheumatoid arthritis. This drug can damage the retina by causing a condition called Plaquenil-induced retinal toxicity, which may lead to vision loss. However, most people taking Plaquenil do not develop this problem. Researchers are interested in studying whether differences in a person's genes explain why some people develop Plaquenil-induced retinal toxicity while others do not.
Objectives:
- To investigate possible correlations between certain genes or genetic mutations and Plaquenil-induced retinal toxicity.
Eligibility:
Design:
OBJECTIVE:
The objective of this study is to investigate whether there is a correlation between genetic mutations, beginning with an analysis of ABCA4, and Plaquenil(R)-induced retinal toxicity and to describe the phenotype of Plaquenil(R)-induced retinal toxicity.
STUDY POPULATION:
The study will enroll 100 patients, 18 years of age or older, found to have Plaquenil(R)-induced retinal toxicity. 200 volunteers with systemic lupus erythematosus (SLE), rheumatoid arthritis (RA), or Sjogren's syndrome and history of Plaquenil(R) use, but without evidence of retinal toxicity, will also be recruited.
DESIGN:
The study is a longitudinal, observational study with five annual outpatient visits to the NEI clinic. All participants will provide a blood sample for genetic analysis, including whole exome or whole genome sequencing.
OUTCOME MEASURES:
Clinical examination and blood samples will be used for genetic testing and mutation identification. The primary outcome of this study is to identify genetic mutations, starting with those in ABCA4 gene, associated with retinal toxicity in participants with a history of Plaquenil(R) use. Secondary objectives include determining the utility of testing metrics in evaluating the presence of retinal toxicity.
333 studies on the registry are indexed under Retinal Diseases; 60 are open to participants now.
This study's planned enrollment of 320 is above the median of 200 across 118 observational studies indexed under Retinal Diseases.
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The study will enroll 100 patients, 18 years of age or older, found to have Plaquenil -induced retinal toxicity. 200 volunteers with systemic lupus erythematosus (SLE), rheumatoid arthritis (RA), or Sjogren's syndrome and history of Plaquenil use, but without evidence of retinal toxicity, will also be recruited.
Go through the criteria one by one — yes, no or not sure — and take the list to your doctor or the study team. Kept in this browser only.
1. Affected participants must be 18 years of age or older and have:
Evidence of Plaquenil(R)-induced retinal toxicity, based on clinical findings.
2. Unaffected volunteers must be 18 years of age or older and have:
No retinal disease upon examination within the last six months.
3. All participants must be able to:
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EXCLUSION CRITERIA:
Participants with other known (genetic) retinal disease including but not limited to: Stargardt's disease and cone or cone-rod dystrophy whose diagnosis preceded their Plaquenil(R) use. Participants with no known previous genetic diagnosis but with clinical findings associated with a genetic diagnosis, such as parafoveal or macular flecks which are associated with Stargardt's disease or fundus flavimaculatus, will also be excluded.
Participants affected by Plaquenil induced retinal toxicity
control participants without Plaquenil induced retinal toxicity
The outcome of this study is to identify genetic mutations, starting with those in ABCA4 gene, associated with retinal toxicity in participants with a history of plaquenil use.
The outcome of this study is to identify genetic mutations, starting with those in ABCA4 gene, associated with retinal toxicity in participants with a history of plaquenil use.
Time frame: annually for five years
The secondary outcome of this study is to determine the utility of various testing metrics in evaluating the presence of retinal toxicity.
The secondary outcome of this study is to determine the utility of various testing metrics in evaluating the presence of retinal toxicity.
Time frame: annually for five years
Plan to share: No
From the registry record's own update history. This site started tracking changes on Sep 25, 2026; for anything earlier, see the record history on ClinicalTrials.gov ↗
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