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Published on: July 14, 2016
Genetic susceptibility to hydroxychloroquine retinal toxicity
Heather G Mack1,2,3, Tanya Kowalski4, Alexis Lucattini5
1Department of Surgery (Ophthalmology), University of Melbourne, Melbourne, Australia.
Abstract:
Background: Hydroxychloroquine retinal toxicity can occur in up to 7.5% of patients receiving treatment; however, possible genetic risk factors are poorly understood. The main objective of the study was to explore candidate genetic risk factors for retinal toxicity.Materials and Methods: Case-control study of patients with confirmed hydroxychloroquine retinal toxicity identified through ophthalmology departments of tertiary care hospitals and private ophthalmic practice in Australia. Participants were 26 Caucasian patients with hydroxychloroquine retinal toxicity who were matched with control subjects for age, gender, treatment duration and indication for hydroxychloroquine treatment. Participants underwent clinical examination, optical coherence tomographic scanning, automated field testing and whole exome sequencing of DNA extracted from saliva or blood. Outcome measures were grade of hydroxychloroquine toxicity and mutations in a panel of 40 candidate genes.Results: No susceptibility or protective factors were identified in either the cohort as a whole or any subset of patients.Conclusions and relevance: Further larger studies, with whole-exome analysis and consideration of additional modifying genes are needed.
Insights
Genetic factors for hydroxychloroquine retinal toxicity remain unclear. This study found no specific genetic susceptibility or protective factors in patients with hydroxychloroquine retinopathy.
Area of Science:
- Ophthalmology
- Genetics
- Pharmacology
Background:
- Hydroxychloroquine (HCQ) retinopathy affects up to 7.5% of patients.
- Genetic risk factors for HCQ retinopathy are not well understood.
- This study investigated potential genetic links to HCQ toxicity.
Purpose of the Study:
- To explore candidate genetic risk factors for hydroxychloroquine retinal toxicity.
- To identify specific gene mutations associated with HCQ-induced retinopathy.
Main Methods:
- A case-control study was conducted with 26 Caucasian patients diagnosed with HCQ retinopathy.
- Participants underwent clinical eye exams, optical coherence tomography, visual field testing, and whole exome sequencing.
- Patients were matched with controls based on age, gender, treatment duration, and HCQ indication.
Main Results:
- No specific genetic susceptibility or protective factors were identified in the overall cohort.
- Analysis of 40 candidate genes did not reveal significant associations with HCQ retinopathy.
- No genetic factors were found to be associated with HCQ toxicity in this patient group.
Conclusions:
- The study did not identify genetic risk factors for hydroxychloroquine retinal toxicity.
- Larger studies incorporating whole-exome analysis and additional modifying genes are necessary.
- Further research is needed to elucidate the genetic basis of HCQ retinopathy.
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