病理性基因突变可能与羟氯喹视网膜病变患者视力差有关。

IF 2.6 3区医学 Q2 OPHTHALMOLOGY

Ophthalmology and Therapy Pub Date : 2025-05-07 DOI:10.1007/s40123-025-01151-w

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

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引用次数: 0

摘要

前言：评估氯喹/羟氯喹（CQ/HCQ）视网膜病变的进展率并确定潜在的视力不良遗传危险因素。方法：对经综合眼科和人口统计学检查诊断为CQ/HCQ视网膜病变的患者进行眼部变量分析，包括最佳矫正视力（BCVA）、眼底自体荧光区（FAF）等。采用全外显子组测序（WES）研究与遗传性视网膜疾病相关的候选基因。结果：纳入41例患者，平均年龄61.1±13.6岁，日剂量8.2±3.6 mg/kg，治疗期12.4±5.6年，平均随访3.3±2.8年。纵向观察显示，尽管停止药物，眼睛的视力继续下降，平均进展率为0.065±0.164 （ΔLogMAR/年），结构变化的平均进展率为2.16±4.32 （Δhypoautofluorescent面积-盘面积比/年）。29例患者中有9例（31%）发现致病性基因突变，并与视力低下相关（优势比OR = 17.402, p = 0.024）。HCQ剂量升高和肾脏疾病与FAF中低自身荧光区域增加相关（OR = 17.659, p）。结论：本研究强调了识别基因突变和监测FAF中低自身荧光区域对于预测和管理CQ/HCQ视网膜病变患者视力结局的重要性。

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Pathologic Genetic Mutations May Correlate with Poor Visual Outcome in Patients with Hydroxychloroquine Retinopathy.

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.

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来源期刊

Ophthalmology and Therapy OPHTHALMOLOGY-

CiteScore

4.20

自引率

3.00%

发文量

157

审稿时长

6 weeks

期刊介绍： Aims and Scope Ophthalmology and Therapy is an international, open access, peer-reviewed (single-blind), and rapid publication journal. The scope of the journal is broad and will consider all scientifically sound research from preclinical, clinical (all phases), observational, real-world, and health outcomes research around the use of ophthalmological therapies, devices, and surgical techniques. The journal is of interest to a broad audience of pharmaceutical and healthcare professionals and publishes original research, reviews, case reports/series, trial protocols and short communications such as commentaries and editorials. Ophthalmology and Therapy will consider all scientifically sound research be it positive, confirmatory or negative data. Submissions are welcomed whether they relate to an international and/or a country-specific audience, something that is crucially important when researchers are trying to target more specific patient populations. 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