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Pathologic Genetic Mutations May Correlate with Poor Visual Outcome in Patients with Hydroxychloroquine Retinopathy.
Hsun-I Chiu1, Hui-Chen Cheng1,2,3,4,5, Chih-Chiau Wu1,2
1Department of Ophthalmology, School of Medicine, National Yang Ming Chiao Tung University, Taipei, Taiwan.
Genetic mutations and fundus autofluorescence (FAF) hypoautofluorescent areas are key to predicting visual outcomes in chloroquine/hydroxychloroquine (CQ/HCQ) retinopathy. Early identification aids in managing this condition.
Area of Science:
- Ophthalmology
- Medical Genetics
- Retinal Diseases
Background:
- Chloroquine/hydroxychloroquine (CQ/HCQ) retinopathy is a serious concern for patients on long-term therapy.
- Understanding progression rates and genetic risk factors is crucial for managing visual outcomes.
Purpose of the Study:
- To evaluate the progression rate of CQ/HCQ retinopathy.
- To identify genetic risk factors associated with poor visual outcomes in patients with CQ/HCQ retinopathy.
Main Methods:
- Comprehensive ocular and demographic examinations were performed.
- Best-corrected visual acuity (BCVA) and fundus autofluorescence (FAF) hypoautofluorescent areas were analyzed.
- Whole exome sequencing (WES) investigated candidate genes; multivariate analysis correlated mutations with visual outcomes.
Main Results:
- Patients showed continued visual acuity decline and structural changes despite drug cessation.
- Pathogenic genetic mutations were identified in 31% of patients and linked to poor visual acuity (OR=17.402, p=0.024).
- Elevated HCQ dose and renal disease correlated with increased FAF hypoautofluorescent areas.
Conclusions:
- Identifying genetic mutations is important for predicting visual outcomes in CQ/HCQ retinopathy.
- Monitoring FAF hypoautofluorescent areas aids in managing visual prognosis.
- Genetic factors play a significant role in the development and progression of CQ/HCQ retinopathy.
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