This study is currently recruiting participants.
Number
10-EI-0140
Sponsoring Institute
National Eye Institute (NEI)
Recruitment Detail
Type: Participants currently recruited/enrolled Gender: Male & Female Min Age: 18 Years Max Age: N/A
Referral Letter Required
No
Population Exclusion(s)
Children
Keywords
Retinal Disease; Plaquenil-Induced; Natural History
Recruitment Keyword(s)
Retinal Disease; Plaquenil-Induced
Condition(s)
Genotype; Retinal Disease
Investigational Drug(s)
None
Investigational Device(s)
Intervention(s)
Supporting Site
National Eye Institute
- 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.
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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. <TAB> 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.
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:
- 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:
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.
Principal Investigator
Referral Contact
For more information: