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Understanding Plaquenil-Induced Retinal Toxicity

This observational study is looking into why some people who take Plaquenil (hydroxychloroquine) develop a condition called retinal toxicity, which can harm their vision, while others do not. Researchers believe that differences in a person's genes might play a role. The study will analyze your genes, starting with the ABCA4 gene, to see if there's a connection to Plaquenil-induced retinal toxicity. You may be able to join if you are at least 18 years old, have a history of taking Plaquenil for conditions like lupus or rheumatoid arthritis, and either have or do not have evidence of retinal toxicity. The main goal is to find genetic changes linked to this eye condition. The study's current status is unclear.

Study design
This is an observational study planning to enroll 320 participants. It will follow participants over time with annual visits.
What's involved
You would have five annual outpatient visits to the NEI clinic. A blood sample will be collected for genetic analysis at one of these visits.
Compensation
Not stated in the trial record.
Follow-up
Participants will be followed annually for five years to identify genetic mutations.

AI-generated from the public study record. Only the study team can confirm whether you're eligible — confirm details with them before making decisions.

NCT01145196

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

Recruiting
Not specifiedAges 18+Observational
National Eye Institute (NEI)
~320 participants
Updated 2026-08-28 on ClinicalTrials.gov

At a glance

Recruiting sites
1 of 1 listed site is recruiting right now
RecruitingSuspended, closed, or not yet open
What they're measuring
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.
Measured over annually for five years

Conditions

Genotype
Retinal Disease

Explore related trials

Plaquenil-Induced Retinal ToxicityRetinal DisorderRheumatoid ArthritisSjogren SyndromeSystemic Lupus ErythematosusRetinal-Specific Phospholipid-Transporting ATPase ABCA4

Where it's being run

1 sites across 1 states
Maryland1

Study leadership

  • Emily Y Chew, M.D. · PRINCIPAL_INVESTIGATOR · National Eye Institute (NEI)

Who to contact

Faith F Chen
[email protected]
(301) 402-1369
Email the study team

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Do you actually qualify for this trial?

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Eligibility criteria

Inclusion

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.
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.
Provide their own consent, and
Safely provide a blood sample.

What this trial measures

  • 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.annually for five years

    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.