Pathologic Genetic Mutations May Correlate with Poor Visual Outcome in Patients with Hydroxychloroquine Retinopathy
Abstract Introduction To evaluate the progression rate and identify potential genetic risk factors for poor visual outcome in chloroquine/hydroxychloroquine (CQ/HCQ) retinopathy. Methods Ocular variables, including best-corrected visual acuity (BCVA), hypoautofluorescent area in fundus autofluoresce...
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Adis, Springer Healthcare
2025-05-01
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| Series: | Ophthalmology and Therapy |
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| Online Access: | https://doi.org/10.1007/s40123-025-01151-w |
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| author | Hsun-I. Chiu Hui-Chen Cheng Chih-Chiau Wu Shih-Jen Chen De-Kuang Hwang Yi-Ming Huang Yu-Bai Chou Po-Kang Lin Tai-Chi Lin Ko-Hua Chen Pei-Yu Lin Yu-Fan Chang An-Guor Wang |
| author_facet | Hsun-I. Chiu Hui-Chen Cheng Chih-Chiau Wu Shih-Jen Chen De-Kuang Hwang Yi-Ming Huang Yu-Bai Chou Po-Kang Lin Tai-Chi Lin Ko-Hua Chen Pei-Yu Lin Yu-Fan Chang An-Guor Wang |
| author_sort | Hsun-I. Chiu |
| collection | DOAJ |
| description | Abstract Introduction To evaluate the progression rate and identify potential genetic risk factors for poor visual outcome in chloroquine/hydroxychloroquine (CQ/HCQ) retinopathy. Methods Ocular variables, including best-corrected visual acuity (BCVA), hypoautofluorescent area in fundus autofluorescence (FAF) and others were analyzed in patients with a diagnosis of CQ/HCQ retinopathy based on comprehensive ocular and demographic examinations. Whole exome sequencing (WES) was used to investigate the candidate genes associated with inherited retinal diseases. Multivariate analysis was used to analyze the correlation between pathogenic genetic mutation and visual outcome, with poor vision defined as BCVA < 6/12. Results Forty-one patients with an average age of 61.1 ± 13.6 years, daily dose of 8.2 ± 3.6 mg/kg, and treatment period of 12.4 ± 5.6 years were recruited with a mean follow-up of 3.3 ± 2.8 years. Longitudinal observation revealed that eyes continued to have visual acuity decline with a mean progression rate of 0.065 ± 0.164 (ΔLogMAR/year) and structural change with a mean progression rate of 2.16 ± 4.32 (Δhypoautofluorescent area-to-disc-area ratio per year) despite drug cessation. Pathogenic genetic mutations were found in nine of 29 patients (31%) and were associated with poor visual acuity (odds ratio, OR = 17.402, p = 0.024). Elevated HCQ dose and renal disease were related to increased hypoautofluorescent area in FAF (OR = 17.659, p < 0.001, and OR = 7.285, p = 0.007, respectively). Conclusions The study highlights the importance of identifying genetic mutations and monitoring hypoautofluorescent areas in FAF for predicting and managing visual outcomes in patients with CQ/HCQ retinopathy. |
| format | Article |
| id | doaj-art-66ae4e755f964b97afd41a0e5fb914fc |
| institution | OA Journals |
| issn | 2193-8245 2193-6528 |
| language | English |
| publishDate | 2025-05-01 |
| publisher | Adis, Springer Healthcare |
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| series | Ophthalmology and Therapy |
| spelling | doaj-art-66ae4e755f964b97afd41a0e5fb914fc2025-08-20T02:06:28ZengAdis, Springer HealthcareOphthalmology and Therapy2193-82452193-65282025-05-011471465148010.1007/s40123-025-01151-wPathologic Genetic Mutations May Correlate with Poor Visual Outcome in Patients with Hydroxychloroquine RetinopathyHsun-I. Chiu0Hui-Chen Cheng1Chih-Chiau Wu2Shih-Jen Chen3De-Kuang Hwang4Yi-Ming Huang5Yu-Bai Chou6Po-Kang Lin7Tai-Chi Lin8Ko-Hua Chen9Pei-Yu Lin10Yu-Fan Chang11An-Guor Wang12Department of Ophthalmology, School of Medicine, National Yang Ming Chiao Tung UniversityDepartment of Ophthalmology, School of Medicine, National Yang Ming Chiao Tung UniversityDepartment of Ophthalmology, School of Medicine, National Yang Ming Chiao Tung UniversityDepartment of Ophthalmology, School of Medicine, National Yang Ming Chiao Tung UniversityDepartment of Ophthalmology, School of Medicine, National Yang Ming Chiao Tung UniversityDepartment of Ophthalmology, School of Medicine, National Yang Ming Chiao Tung UniversityDepartment of Ophthalmology, School of Medicine, National Yang Ming Chiao Tung UniversityDepartment of Ophthalmology, School of Medicine, National Yang Ming Chiao Tung UniversityDepartment of Ophthalmology, School of Medicine, National Yang Ming Chiao Tung UniversityDepartment of Ophthalmology, School of Medicine, National Yang Ming Chiao Tung UniversityDepartment of Ophthalmology, School of Medicine, National Yang Ming Chiao Tung UniversityDepartment of Ophthalmology, School of Medicine, National Yang Ming Chiao Tung UniversityDepartment of Ophthalmology, School of Medicine, National Yang Ming Chiao Tung UniversityAbstract Introduction To evaluate the progression rate and identify potential genetic risk factors for poor visual outcome in chloroquine/hydroxychloroquine (CQ/HCQ) retinopathy. Methods Ocular variables, including best-corrected visual acuity (BCVA), hypoautofluorescent area in fundus autofluorescence (FAF) and others were analyzed in patients with a diagnosis of CQ/HCQ retinopathy based on comprehensive ocular and demographic examinations. Whole exome sequencing (WES) was used to investigate the candidate genes associated with inherited retinal diseases. Multivariate analysis was used to analyze the correlation between pathogenic genetic mutation and visual outcome, with poor vision defined as BCVA < 6/12. Results Forty-one patients with an average age of 61.1 ± 13.6 years, daily dose of 8.2 ± 3.6 mg/kg, and treatment period of 12.4 ± 5.6 years were recruited with a mean follow-up of 3.3 ± 2.8 years. Longitudinal observation revealed that eyes continued to have visual acuity decline with a mean progression rate of 0.065 ± 0.164 (ΔLogMAR/year) and structural change with a mean progression rate of 2.16 ± 4.32 (Δhypoautofluorescent area-to-disc-area ratio per year) despite drug cessation. Pathogenic genetic mutations were found in nine of 29 patients (31%) and were associated with poor visual acuity (odds ratio, OR = 17.402, p = 0.024). Elevated HCQ dose and renal disease were related to increased hypoautofluorescent area in FAF (OR = 17.659, p < 0.001, and OR = 7.285, p = 0.007, respectively). Conclusions The study highlights the importance of identifying genetic mutations and monitoring hypoautofluorescent areas in FAF for predicting and managing visual outcomes in patients with CQ/HCQ retinopathy.https://doi.org/10.1007/s40123-025-01151-wHydroxychloroquine retinopathyProgression rateRisk factorsGenetic mutation |
| spellingShingle | Hsun-I. Chiu Hui-Chen Cheng Chih-Chiau Wu Shih-Jen Chen De-Kuang Hwang Yi-Ming Huang Yu-Bai Chou Po-Kang Lin Tai-Chi Lin Ko-Hua Chen Pei-Yu Lin Yu-Fan Chang An-Guor Wang Pathologic Genetic Mutations May Correlate with Poor Visual Outcome in Patients with Hydroxychloroquine Retinopathy Ophthalmology and Therapy Hydroxychloroquine retinopathy Progression rate Risk factors Genetic mutation |
| title | Pathologic Genetic Mutations May Correlate with Poor Visual Outcome in Patients with Hydroxychloroquine Retinopathy |
| title_full | Pathologic Genetic Mutations May Correlate with Poor Visual Outcome in Patients with Hydroxychloroquine Retinopathy |
| title_fullStr | Pathologic Genetic Mutations May Correlate with Poor Visual Outcome in Patients with Hydroxychloroquine Retinopathy |
| title_full_unstemmed | Pathologic Genetic Mutations May Correlate with Poor Visual Outcome in Patients with Hydroxychloroquine Retinopathy |
| title_short | Pathologic Genetic Mutations May Correlate with Poor Visual Outcome in Patients with Hydroxychloroquine Retinopathy |
| title_sort | pathologic genetic mutations may correlate with poor visual outcome in patients with hydroxychloroquine retinopathy |
| topic | Hydroxychloroquine retinopathy Progression rate Risk factors Genetic mutation |
| url | https://doi.org/10.1007/s40123-025-01151-w |
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