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Article

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

Objective:

To present a case of hydroxychloroquine (HCQ)-associated retinal toxicity in a patient with a heterozygous LRAT gene mutation.

Key Findings:

The patient exhibited bilateral bull’s-eye retinal pigment epithelium changes consistent with HCQ retinopathy.
Visual acuity deteriorated over three years despite discontinuation of HCQ.
A heterozygous LRAT mutation was identified.

Interpretation:

The interplay between HCQ exposure and genetic predisposition is noted, but further research is needed to clarify the relationship.

Limitations:

Limited studies on genetic susceptibility to HCQ-induced retinal toxicity.
The case study is based on a single patient, limiting generalizability.

Conclusion:

This case presents a patient with HCQ-associated retinal toxicity and a heterozygous LRAT mutation.

Mohan Bhadriraju, MD

Specialties: Ophthalmology

Bio: Mohan Bhadriraju, MD, is a medical doctor specializing in ophthalmology with a focus on retinal diseases. He has contributed to research investigating the genetic and pharmacologic factors influencing retinal toxicity, including cases involving hydroxychloroquine retinal toxicity and mutations affecting the visual cycle enzyme LRAT. His work highlights the complex interaction between genetic predispositions and drug exposures in the pathophysiology of retinal disorders.

Damla Oncel, MD

Specialties: Ophthalmology

Bio: Damla Oncel, MD, is a medical doctor specializing in retinal diseases. She has contributed to research on hydroxychloroquine (HCQ)-associated retinal toxicity, particularly examining the genetic factors that may amplify risk, such as mutations in the LRAT gene involved in the visual cycle. Her work highlights the interaction between pharmacologic exposure to immunomodulating drugs and genetic predisposition to retinal degeneration. This focus situates her expertise within medical retina and genetic influences on ocular conditions.