Incidence of hydroxychloroquine retinopathy in 1,207 patients in a large multicenter outpatient practice.
G D Levy, S J Munz, J Paschal...
https://pubmed.ncbi.nlm.nih.gov/9259429Actively Recruiting
Age: 18Years - 120Years
All Genders
ID01145196
Genotype-Phenotype Study of Patients With Plaquenil-induced Retinal Toxicity
Led by National Eye Institute (NEI) · Updated on 2026-06-01
320
Participants Needed
1
Research Sites
N/A
Total Duration
On this page
AI-Summary
What this Trial Is About
Researchers are investigating the relationship between genetic mutations, starting with the ABCA4 gene, and retinal toxicity caused by Plaquenil (hydroxychloroquine), a drug used to treat autoimmune diseases like systemic lupus erythematosus (SLE), rheumatoid arthritis (RA), and Sjogren's syndrome. The study aims to understand why some people develop Plaquenil-induced retinal toxicity, which can lead to vision loss, while others do not. This is a longitudinal observational study involving two groups: participants who have developed Plaquenil-induced retinal toxicity and those who have not, all with a history of Plaquenil use and autoimmune disease. The study requires five annual outpatient visits, during which participants undergo clinical eye exams and provide blood samples for genetic testing, including whole exome and whole genome sequencing. No treatment is provided as part of the study. Participants will provide personal and family medical histories and undergo full eye examinations during each visit. Researchers will analyze genetic data and clinical findings annually over five years to identify mutations associated with retinal toxicity and evaluate testing methods for detecting this condition. The study's primary outcome is to find genetic mutations linked to Plaquenil-induced retinal toxicity, while secondary outcomes assess the usefulness of various diagnostic tests.
CONDITIONS
Brief Title
Genotype-Phenotype Study of Patients With Plaquenil -Induced Retinal Toxicity, With Evaluation of the ABCA4 Gene
Who Can Participate
Age: 18Years - 120Years
All Genders
Eligibility Criteria
You may qualify if you...
- Affected participants must be 18 years of age or older
- History of systemic lupus erythematosus (SLE), rheumatoid arthritis (RA), or Sjogren's syndrome
- History of Plaquenil use
- Evidence of Plaquenil-induced retinal toxicity based on clinical findings
- Unaffected volunteers must be 18 years of age or older
- History of systemic lupus erythematosus (SLE), rheumatoid arthritis (RA), or Sjogren's syndrome
- History of Plaquenil use
- No retinal disease upon examination within the last six months
- All participants must be able to provide their own consent
- All participants must be able to safely provide a blood sample
You will not qualify if you...
- Participants with other known genetic retinal diseases such as Stargardt's disease or cone or cone-rod dystrophy diagnosed before Plaquenil use
- Participants with clinical findings linked to genetic retinal diseases, such as parafoveal or macular flecks associated with Stargardt's disease or fundus flavimaculatus, even without a prior genetic diagnosis
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
1
2
3
Your Study Journey
Screening
Duration - 2 to 4 weeks
Participants are screened for eligibility to participate in the trial.
1 visit (in-person)
Long-term Monitoring
Duration - 5 years
Participants attend annual outpatient visits for clinical examination and blood sample collection to evaluate genetic mutations associated with Plaquenil-induced retinal toxicity.
5 annual outpatient visits
Trial Site Locations
Total: 1 location
1
National Institutes of Health Clinical Center
Bethesda, Maryland, United States, 20892
Actively Recruiting
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Research Team
F
Faith F Chen
E
Emily Y Chew, M.D.
How is the study designed?
Study Type
OBSERVATIONAL
Masking
N/A
Allocation
N/A
Model
N/A
Primary Purpose
N/A
Number of Arms
2
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Published Research Related To This Trial
Retinopathy following chloroquine therapy.
H E HOBBS, A SORSBY, A FREEDMAN
https://pubmed.ncbi.nlm.nih.gov/14402143An analysis of allelic variation in the ABCA4 gene.
A R Webster, E Héon, A J Lotery...
https://pubmed.ncbi.nlm.nih.gov/11328725