Amplified HCQ Retinal Toxicity in a Patient With an LRAT Mutation

Case Study: A heterozygous LRAT mutation may have contributed to progressive retinal degeneration following HCQ exposure.

By: Mohan Bhadriraju, MD, Damla Oncel, MD, Mathew W. MacCumber, MD, PhD

Retinal Physician June 2, 2026

Clinical Report: Amplified HCQ Retinal Toxicity in a Patient With an LRAT Mutation

Overview

This case study presents a 70-year-old female with progressive retinal degeneration following hydroxychloroquine (HCQ) exposure and a heterozygous LRAT mutation. Despite discontinuing HCQ, her retinal toxicity progressed.

Background

Hydroxychloroquine (HCQ) is widely used for autoimmune diseases but is associated with retinal toxicity, particularly affecting the retinal pigment epithelium. The cumulative risk of HCQ toxicity increases significantly with prolonged use.

Data Highlights

No numerical data or trial data presented in the article.

Key Findings

A heterozygous LRAT mutation may amplify HCQ-associated retinal toxicity.
The patient experienced bilateral bull’s-eye retinal pigment epithelium changes consistent with HCQ retinopathy.
Visual acuity deteriorated despite discontinuation of HCQ.
Genetic testing confirmed the presence of the LRAT mutation.
Major risk factors for HCQ toxicity include higher doses, long duration of use, and renal disease.

Clinical Implications

Monitoring for retinal changes should be a routine part of care for patients on HCQ.

Conclusion

This case underscores the importance of recognizing genetic predispositions in patients experiencing retinal toxicity from HCQ, which may influence management strategies.

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