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

Genotype - Phenotype Study of Patients With Plaquenil-induced Retinal Toxicity

Who can join

Ages 18 to 120 · All sexes

* 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.

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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.

About the study

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 developed Plaquenil-induced retinal toxicity will be eligible for this study.

Design:

* The study requires five annual outpatient visits to the NIH Clinical Center. * Participants will provide a personal and family medical history, and will have a full eye examination. * Participants will also provide blood samples for genetic analysis, including whole exome and whole genome sequencing. * No treatment will be provided as part of this protocol.

Sponsor: National Eye Institute (NEI) · Participants: 320 · Started: Aug 23, 2010

Contact the study team

• Faith F Chen · Phone: (301) 402-1369
• Emily Y Chew, M.D. · Phone: (301) 496-6583

Official record on ClinicalTrials.gov — NCT01145196

Locations in the U.S.

Conditions

• Retinal Disorders

From ClinicalTrials.gov, data retrieved Sep 30, 2026. Each study sets its own eligibility; the study team decides who can join.