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诊断难题:一例类科茨病性视网膜色素变性的眼部特征及治疗结果

Diagnostic Dilemma: Ocular Features and Treatment Outcome of a Case of Coats-Like Retinitis Pigmentosa.

作者信息

Siow Suyi, Abdullah Nurul Ashikin

机构信息

Ophthalmology, Hospital Kuala Lumpur, Kuala Lumpur, MYS.

出版信息

Cureus. 2024 Oct 17;16(10):e71695. doi: 10.7759/cureus.71695. eCollection 2024 Oct.

Abstract

Coats-like retinitis pigmentosa is a rare disease demonstrating both features of Coats disease and retinitis pigmentosa. We are reporting a case of a 15-year-old female with no known medical illness who presented with a one-year history of nyctalopia and bilateral painless blurred vision. Fundus examination revealed bilateral optic disc swelling, telangiectasia, and bony spicules. Optical coherence tomography and fundus fluorescein angiography showed cystoid macular edema (CMO). The diagnosis of Coats-like retinitis pigmentosa with CMO was made. She received laser indirect ophthalmoscope photocoagulation and intravitreal anti-vascular endothelial growth factor therapy, but her vision remained refractory. Her diagnosis was subsequently revised to bilateral intermediate uveitis causing CMO and her vision improved to periocular steroid injections. This case emphasizes how critical it is to identify symptoms and diagnose the illness as soon as possible because treating related complications on time can save a patient's sight and provide long-term benefits.

摘要

类科茨病性视网膜色素变性是一种罕见疾病,兼具科茨病和视网膜色素变性的特征。我们报告一例15岁女性病例,该女性无已知病史,有一年夜盲及双侧无痛性视力模糊病史。眼底检查发现双侧视盘肿胀、毛细血管扩张和骨细胞样色素沉着。光学相干断层扫描和眼底荧光血管造影显示黄斑囊样水肿(CMO)。诊断为伴有CMO的类科茨病性视网膜色素变性。她接受了激光间接检眼镜光凝和玻璃体内抗血管内皮生长因子治疗,但视力仍无改善。随后她的诊断被修订为双侧中间葡萄膜炎导致CMO,经眼周注射类固醇后视力有所改善。该病例强调了尽早识别症状和诊断疾病的重要性,因为及时治疗相关并发症可挽救患者视力并带来长期益处。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6d13/11568662/ad1a2d6d343a/cureus-0016-00000071695-i01.jpg

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