Study of Genetic Factors in Plaquenil-Induced Retinal Toxicity Among Adults with Lupus, Rheumatoid Arthritis, or Sjogrens Syndrome

What this Trial Is About

This research aims to explore the link between genetic mutations, particularly in the ABCA4 gene, and retinal toxicity caused by Plaquenil hydroxychloroquine in individuals with autoimmune diseases such as systemic lupus erythematosus, rheumatoid arthritis, or Sjogrens syndrome. The study includes both people who have developed Plaquenil-induced retinal toxicity and those who have not, to better understand why some patients experience this eye condition while others do not. Participants will have five annual outpatient visits during which they will provide personal and family medical histories and undergo comprehensive eye exams. Blood samples will be collected at each visit for genetic analysis, including whole exome and whole genome sequencing. No treatments are given as part of this observational study it focuses on identifying genetic factors associated with retinal toxicity. During the study, participants will be monitored annually for five years with clinical eye examinations and blood tests. Researchers will evaluate genetic mutations and assess various testing methods to detect retinal toxicity. The studys main goal is to identify genetic markers linked to this condition, helping to improve understanding and future evaluations. Participation involves yearly visits and assessments over a five-year period.

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