Coats-like Vasculopathy in Inherited Retinal Disease


Tags Retina
Journal Ophthalmology
Status 審查完成
校稿者 蕭靜熹 醫師

Ophthalmology Volume 130, Number 12, December 2023


本研究旨在描述目前最大型、表現型和基因型多樣的 先天性視網膜疾病Inherited retinal diseases (IRD)相關 Coats-like vasculopathy (CLV) 患者群。通過回顧臨床記錄、眼科影像和分子診斷來進行研究。主要結果指標包括視覺功能、視網膜影像和治療反應。研究結果顯示,CLV診斷時的患者整體年齡為30.7(16.9)歲。81%的患者進行了基因檢測,其中40人進行了分子解決(molecularly solved)。最終最佳矯正視力明顯惡化(P = 0.002),60%的患者在視力規律檢查期間失去了15 ETDRS字母或更多,31%的患者進行了更進一步的視覺障礙治療。

English Abstract

The article describes a study on patients with Coats-like vasculopathy (CLV) associated with inherited retinal diseases (IRD). The study reviewed clinical notes, ophthalmic imaging, and molecular diagnosis from two international centers to describe the largest and most diverse cohort of patients with IRD-related CLV. The main findings of the study include:

  • The overall age of patients at CLV diagnosis was 30.7 years.
  • 81% of patients had genetic testing, and 60% of them lost 15 ETDRS letters or more over follow-up in one or both eyes.
  • 31% of patients progressed to more advanced stages of visual impairment.
  • IRD-related CLV is rare, sporadic, and mostly bilateral.
  • Patients with decreased initial visual acuity, changes affecting 2 or more retinal quadrants, and CRB1-retinopathy may be at higher risk of a poor prognosis.