Moorfields Eye Hospital, London, United Kingdom; UCL Institute of Ophthalmology, University College London, London, United Kingdom.
Hôpital Ophtalmique Jules-Gonin, Lausanne, Switzerland.
Ophthalmology. 2023 Dec;130(12):1327-1335. doi: 10.1016/j.ophtha.2023.07.027. Epub 2023 Aug 5.
To describe the largest, most phenotypically and genetically diverse cohort of patients with inherited retinal disease (IRD)-related Coats-like vasculopathy (CLV).
Multicenter retrospective cohort study.
A total of 67 patients with IRD-related CLV.
Review of clinical notes, ophthalmic imaging, and molecular diagnosis from 2 international centers.
Visual function, retinal imaging, management, and response to treatment were evaluated and correlated.
The prevalence of IRD-related CLV was 0.5%; 54% of patients had isolated retinitis pigmentosa (RP), 21% had early-onset severe retinal dystrophy, and less frequent presentations were syndromic RP, sector RP, cone-rod dystrophy, achromatopsia, PAX6-related dystrophy, and X-linked retinoschisis. The overall age of patients at CLV diagnosis was 30.7 ± 16.9 years (1-83). Twenty-one patients (31%) had unilateral CLV, and the most common retinal features were telangiectasia, exudates, and exudative retinal detachment (ERD) affecting the inferior and temporal retina. Macular edema/schisis was observed in 26% of the eyes, and ERD was observed in 63% of the eyes. Fifty-four patients (81%) had genetic testing, 40 of whom were molecularly solved. Sixty-six eyes (58%) were observed, 17 eyes (15%) were treated with a single modality, and 30 eyes (27%) had a combined approach. Thirty-five eyes (31%) were "good responders," 42 eyes (37%) were "poor responders," 22 eyes (19%) had low vision at baseline and were only observed, and 12 eyes (11%) did not have longitudinal assessment. Twenty-one observed eyes (62%) responded well versus 14 (33%) treated eyes. Final best-corrected visual acuity was significantly worse than baseline (P = 0.002); 40 patients (60%) lost 15 ETDRS letters or more over follow-up in 1 or both eyes, and 21 patients (31%) progressed to more advanced stages of visual impairment.
Inherited retinal disease-related CLV is rare, sporadic, and mostly bilateral; there is no gender predominance, and it can occur in diverse types of IRD at any point of the disease, with a mean onset in the fourth decade of life. Patients with IRD-related CLV who have decreased initial visual acuity, ERD, CLV changes affecting 2 or more retinal quadrants, and CRB1-retinopathy may be at higher risk of a poor prognosis.
FINANCIAL DISCLOSURE(S): Proprietary or commercial disclosure may be found in the Footnotes and Disclosures at the end of this article.
描述一组最大的、表型和遗传多样性最丰富的遗传性视网膜疾病（IRD）相关 Coats 样血管病变（CLV）患者队列。
多中心回顾性队列研究。
共有 67 名 IRD 相关 CLV 患者。
对来自 2 个国际中心的临床病历、眼科影像学和分子诊断进行回顾。
评估和关联视觉功能、视网膜成像、治疗管理和治疗反应。
IRD 相关 CLV 的患病率为 0.5%；54%的患者为孤立性色素性视网膜炎（RP），21%为早发性严重视网膜营养不良，较少见的表现为综合征性 RP、象限性 RP、圆锥-杆营养不良、色盲、PAX6 相关营养不良和 X 连锁性视网膜劈裂症。CLV 诊断时患者的平均年龄为 30.7±16.9 岁（1-83 岁）。21 名患者（31%）为单侧 CLV，最常见的视网膜特征为毛细血管扩张、渗出物和渗出性视网膜脱离（ERD），累及下侧和颞侧视网膜。26%的眼观察到黄斑水肿/劈裂，63%的眼观察到 ERD。54 名患者（81%）接受了基因检测，其中 40 名患者进行了分子解析。共观察到 66 只眼（58%），17 只眼（15%）接受单一治疗，30 只眼（27%）采用联合治疗。35 只眼（31%）为“良好反应者”，42 只眼（37%）为“不良反应者”，22 只眼（19%）基线视力较差，仅进行观察，12 只眼（11%）未进行纵向评估。21 只观察眼（62%）的反应优于 14 只（33%）治疗眼。最终最佳矫正视力明显较基线差（P=0.002）；40 名患者（60%）在 1 只或 2 只眼中随访时视力丧失 15 个或更多 ETDRS 字母，21 名患者（31%）进展为更严重的视力损害阶段。
IRD 相关 CLV 罕见、散发性，且大多为双侧性；无性别优势，可在疾病的任何阶段发生于多种类型的 IRD，平均发病年龄为 40 岁左右。初始视力下降、ERD、影响 2 个或更多视网膜象限的 CLV 变化以及 CRB1-视网膜病变的 IRD 相关 CLV 患者可能预后不良风险更高。
本文末尾的脚注和披露中可能存在专有的或商业的披露信息。
