关键词: RS1 X-linked retinoschisis masquerade syndrome phenocopy phenotyping uveitis

来  源:   DOI:10.3390/jcm12113729   PDF(Pubmed)

Abstract:
X-linked retinoschisis (XLRS) shows features also seen in patients with uveitis and is recognized as an uveitis masquerade syndrome. This retrospective study aimed to describe characteristics of XLRS patients with an initial uveitis diagnosis and to contrast these to patients with an initial XLRS diagnosis. Patients referred to a uveitis clinic, which turned out to have XLRS (n = 4), and patients referred to a clinic for inherited retinal diseases (n = 18) were included. All patients underwent comprehensive ophthalmic examinations, including retinal imaging with fundus photography, ultra-widefield fundus imaging, and optical coherence tomography (OCT). In patients with an initial diagnosis of uveitis, a macular cystoid schisis was always interpreted as an inflammatory macular edema; vitreous hemorrhages were commonly interpreted as intraocular inflammation. Patients with an initial diagnosis of XLRS rarely (2/18; p = 0.02) showed vitreous hemorrhages. No additional demographic, anamnestic, and anatomical differences were found. An increased awareness of XLRS as a uveitis masquerade syndrome may facilitate early diagnosis and may prevent unnecessary therapies.
摘要:
X连锁视网膜劈裂(XLRS)在葡萄膜炎患者中也显示出特征,被认为是葡萄膜炎伪装综合征。这项回顾性研究旨在描述最初诊断为葡萄膜炎的XLRS患者的特征,并将其与最初诊断为XLRS的患者进行对比。患者转诊到葡萄膜炎诊所,结果证明有XLRS(n=4),包括转诊到遗传性视网膜疾病诊所的患者(n=18)。所有患者都接受了全面的眼科检查,包括眼底照相的视网膜成像,超宽视野眼底成像,和光学相干断层扫描(OCT)。在最初诊断为葡萄膜炎的患者中,黄斑囊样分裂通常被解释为炎性黄斑水肿;玻璃体出血通常被解释为眼内炎症.最初诊断为XLRS的患者很少(2/18;p=0.02)出现玻璃体出血。没有额外的人口统计,记忆,和解剖学上的差异被发现。对XLRS作为葡萄膜炎伪装综合征的认识增加可能有助于早期诊断,并可能防止不必要的治疗。
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