Coats-like vasculopathy in patients with an inherited retinal disease: a case series and literature review.

IF 2.8 3区医学 Q1 OPHTHALMOLOGY

Eye Pub Date : 2025-04-01 DOI:10.1038/s41433-025-03778-2

Neofytos Mavris, Brice Nguedia Vofo, Samer Khateb, Jaime Levy

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引用次数: 0

Abstract

Objective: To examine clinical characteristics, genetic associations, and visual outcomes of Coats-like vasculopathy (CLV) in patients with inherited retinal disease (IRD).

Methods: A literature review of studies published through December 30, 2023, and a cohort analysis of cases from Hadassah Medical Center were conducted. Data from 47 studies (163 patients, 277 eyes) and 10 institutional cases (17 eyes) were analysed using descriptive statistics.

Results: Two novel CLV-associated genes, LRP5 and KIZ, were identified in our cohort. Literature findings showed that 69.9% of cases had bilateral asymmetric CLV, with 38.7% of patients being legally blind at their final assessment. The mean interval between IRD onset and CLV diagnosis was 10.38 ± 10.23 years. While baseline best-corrected visual acuity (BCVA) showed no significant difference between unilateral CLV-affected vs. non-CLV-affected eyes (51.19 vs. 72 ETDRS letters, respectively; p = 0.051), BCVA was significantly different at CLV onset (29.19 vs. 69.12 ETDRS letters, respectively; p < 0.001) and at the final visit (19.93 vs. 63.55 ETDRS letters, respectively; p < 0.001). Visual outcomes were similar across treatment modalities (laser, cryotherapy ± laser).

Conclusions: CLV in IRD patients demonstrates clinical and genetic heterogeneity, with significant visual impairment regardless of treatment. The discovery of LRP5 and KIZ expands the genetic landscape of CLV. The profound and progressive vision loss in CLV-affected eyes underscores the need for early detection and tailored management strategies.

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遗传性视网膜疾病患者的衣样血管病变：病例系列和文献综述。

目的研究遗传性视网膜疾病（IRD）患者大衣样血管病变（CLV）的临床特征、遗传关联和视觉结果：对截至 2023 年 12 月 30 日发表的研究进行了文献综述，并对哈大沙医疗中心的病例进行了队列分析。采用描述性统计方法分析了来自 47 项研究（163 名患者，277 只眼睛）和 10 个机构病例（17 只眼睛）的数据：结果：在我们的队列中发现了两个新的 CLV 相关基因 LRP5 和 KIZ。文献研究结果表明，69.9%的病例为双侧不对称CLV，38.7%的患者在最终评估时为法定失明。从IRD发病到确诊CLV的平均间隔时间为（10.38 ± 10.23）年。单侧CLV受影响眼与非CLV受影响眼的基线最佳矫正视力（BCVA）无显著差异（分别为51.19与72 ETDRS字母；P = 0.051），而CLV发病时的BCVA则有显著差异（分别为29.19与69.12 ETDRS字母；P 结论：IRD患者的CLV表现出明显的视力障碍，这可能与患者的视网膜病变有关：IRD患者的CLV表现出临床和遗传异质性，无论治疗与否，都会造成严重的视力损害。LRP5 和 KIZ 的发现扩大了 CLV 的遗传范围。受CLV影响的眼睛会出现严重的渐进性视力下降，这凸显了早期检测和定制管理策略的必要性。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Eye 医学-眼科学

CiteScore

6.40

自引率

5.10%

发文量

481

审稿时长

3-6 weeks

期刊介绍： Eye seeks to provide the international practising ophthalmologist with high quality articles, of academic rigour, on the latest global clinical and laboratory based research. Its core aim is to advance the science and practice of ophthalmology with the latest clinical- and scientific-based research. Whilst principally aimed at the practising clinician, the journal contains material of interest to a wider readership including optometrists, orthoptists, other health care professionals and research workers in all aspects of the field of visual science worldwide. Eye is the official journal of The Royal College of Ophthalmologists. Eye encourages the submission of original articles covering all aspects of ophthalmology including: external eye disease; oculo-plastic surgery; orbital and lacrimal disease; ocular surface and corneal disorders; paediatric ophthalmology and strabismus; glaucoma; medical and surgical retina; neuro-ophthalmology; cataract and refractive surgery; ocular oncology; ophthalmic pathology; ophthalmic genetics.