Genotype-Phenotype Study of Patients With Plaquenil -Induced Retinal Toxicity, With Evaluation of the ABCA4 Gene

Launched by NATIONAL EYE INSTITUTE (NEI) · Jun 15, 2010

Keywords

ClinConnect Summary

This clinical trial is studying why some people who take the medication Plaquenil (used for autoimmune diseases like lupus and rheumatoid arthritis) develop eye problems called retinal toxicity, while others do not. Researchers want to look at specific genes to see if certain genetic differences might explain this risk. The trial is open to adults aged 18 and older who have taken Plaquenil, including those who have experienced retinal toxicity and those who have not.

Participants will need to visit the National Eye Institute or a nearby clinic one or two times over a two-year period. During these visits, they will discuss their personal and family medical history, undergo a comprehensive eye exam, and provide blood samples for testing. It’s important to note that no treatment will be provided as part of this study. Interested individuals should also be aware that those with other known genetic eye diseases will not be eligible to participate.

Gender

ALL

Eligibility criteria

• -INCLUSION CRITERIA:
• 1. Affected participants must be 18 years of age or older and have:
• • History of systemic lupus erythematosus (SLE), rheumatoid arthritis (RA) or Sj(SqrRoot)(Delta)gren s syndrome, and
• • History of Plaquenil use, and
• • Evidence of Plaquenil -induced retinal toxicity, based on clinical findings.
• 2. Unaffected volunteers must be 18 years of age or older and have:
• • History of systemic lupus erythematosus (SLE), rheumatoid arthritis (RA) or Sj(SqrRoot)(Delta)gren s syndrome, and
• • History of Plaquenil use, and
• • No retinal disease upon examination within the last six months.
• 3. All participants must be able to:
• • Provide their own consent, and
• • Safely provide a blood sample.
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• EXCLUSION CRITERIA:
• • 1. 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 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.