Genotype - Phenotype Study of Patients With Plaquenil-induced Retinal Toxicity
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. * Both individuals who have and have not developed plaquenil-induced retinal toxicity will be eligible for this study.
Design: * The study requires one or two visits to the National Eye Institute or an outpatient study clinic over a maximum 2-year period. * Participants will provide a personal and family medical history, and will have a full eye examination. * Participants will also provide blood samples for testing. * No treatment will be provided as part of this protocol.
• 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.
• 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.
• All participants must be able to:
‣ Provide their own consent, and
⁃ Safely provide a blood sample.
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