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