ABSTRACT

Background: Coats-like retinal vasculopathy in retinitis pigmentosa (RP) is rare. This study describes its clinical spectrum, management outcomes and genetic associations in patients with autosomal recessive RP (arRP).

Materials and methods: Retrospective review of ophthalmic, multimodal imaging, genetic findings and treatment outcomes of arRP patients who developed Coats-like features. Identification of patients included searching a retinal dystrophy registry of 798 patients.

Results: Ten eyes of six patients with arRP (4 males, 2 females, mean age 33 years) demonstrated Coats-like features, namely inferotemporal peripheral retinal telangiectasis combined with unilateral inferotemporal vasoproliferative tumor (VPT) in 4 eyes. Exudative retinal detachment (ERD) developed in five eyes of which four had VPT. Ablation of the vasculopathy using retinal laser photocoagulation and/or cryotherapy in eight eyes, allowed ERD and/or lipid exudation to decrease in seven eyes despite incomplete vasculopathy regression. Additional intravitreal triamcinolone acetonide injection in one eye failed to regress the ERD and associated VPT. Observation in one eye caused increased exudation. Six mutations, including three novel mutations, were found in CRB1, CNGB1, RPGR, and TULP1.

Conclusions: Coats-like features in arRP range from retinal telangiectasis to VPTs with extensive ERD and occur predominantly in the inferotemporal retinal periphery. In addition to their classic association with CRB1 mutations, other genes are implicated. To the best of our knowledge, this is the first report describing CNGB1 mutations in Coats-like RP. Awareness of the vasculopathy spectrum is important, and timely ablation of the vasculopathy with long-term monitoring is recommended to prevent additional visual loss in RP patients.

摘要

背景：色素性视网膜炎（RP）中的类外套样视网膜血管病很少见。这项研究描述了常染色体隐性RP（arRP）患者的临床范围，治疗结果和遗传关联。

材料和方法：回顾性研究出现Coats样特征的arRP患者的眼科，多模式成像，遗传发现和治疗结果。识别患者包括搜索798例视网膜营养不良登记册。

结果：6例arRP患者的10眼（男4例，女2例，平均年龄33岁）表现出Coats样特征，即颞下周围视网膜毛细血管扩张合并单侧颞下血管增生性肿瘤（VPT）。五只眼出现渗出性视网膜脱离（ERD），其中四只患有VPT。尽管视网膜病变不完全消退，但使用视网膜激光光凝和/或冷冻疗法消融血管病变的八只眼使七只眼的ERD和/或脂质渗出减少。另一只眼内玻璃体注射曲安奈德丙酮酸酯不能使ERD和相关的VPT退步。一只眼睛观察导致渗出增加。在CRB1，CNGB1，RPGR和图1。

结论：arRP的毛发样特征范围广泛，从视网膜毛细血管扩张到具有广泛ERD的VPT，主要发生在颞下视网膜周围。除了与CRB1突变的经典关联外，还涉及其他基因。据我们所知，这是第一份描述Coats样RP中CNGB1突变的报告。认识血管病变范围很重要，建议通过长期监测及时消融血管病变，以防止RP患者额外的视力丧失。