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

Description

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.

Conditions

Genotype, Retinal Disease

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Study Overview

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Study Details

Study overview

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.

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

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

Condition
Genotype
Intervention / Treatment

-

Contacts and Locations

Bethesda

National Institutes of Health Clinical Center, Bethesda, Maryland, United States, 20892

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

For general information about clinical research, read Learn About Studies.

Eligibility 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.
  • 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.

Ages Eligible for Study

18 Years to

Sexes Eligible for Study

ALL

Accepts Healthy Volunteers

No

Collaborators and Investigators

National Eye Institute (NEI),

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

Study Record Dates

N/A