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

5 Key Takeaways

1

A heterozygous LRAT mutation may amplify retinal toxicity in patients exposed to hydroxychloroquine (HCQ).
2

HCQ is associated with retinal toxicity primarily affecting the retinal pigment epithelium and photoreceptor layers.
3

The cumulative risk of HCQ retinal toxicity increases significantly with prolonged exposure, reaching approximately 20% after 20 years.
4

Genetic testing revealed a heterozygous LRAT mutation in a patient with HCQ-associated retinal toxicity and progressive vision loss.
5

LRAT is crucial for vitamin A metabolism, and its mutation may impair retinoid storage, worsening visual acuity in affected patients.

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.

PentaVision

Retinal Physician

Amplified HCQ Retinal Toxicity in a Patient With an LRAT Mutation

5 Key Takeaways

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