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

Recruitingn/aAges 18 Years - 120 YearsAllNational Eye Institute (NEI)
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In plain words

What the trial is, and whether it could suit you

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: * Individuals at least 18 years of age who have previously used Plaquenil. * History of systemic lupus erythematosus (SLE), rheumatoid arthritis (RA), or Sjogren's syndrome. * Both individuals who have and have not develop

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๐Ÿ“‹ Eligibility rules (as published)
* 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 Sjogren's syndrome, and * History of Plaquenil(R) use, and * Evidence of Plaquenil(R)-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 Sjogren's syndrome, and * History of Plaquenil(R) 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. \<TAB\> 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.
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What it tests

  • Not listed
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Where

1 site
National Institutes of Health Clinical Center
Bethesda, United States
๐Ÿค Taking part is your choice, and you can leave at any time. Only the trial team can confirm you are eligible โ€” always decide together with your own doctor.
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