Systemic Diagnostic Testing in Patients With Apparently Isolated Uveal Coloboma
Systemic Diagnostic Testing in Patients With Apparently Isolated Uveal Coloboma
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DOI：
10.1016/j.ajo.2013.06.037
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发表时间：
2013-12-01
影响因子：
4.2
通讯作者：
Brooks, Brian P.
中科院分区：
文献类型：
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作者：
Huynh, Nancy;Blain, Delphine;Brooks, Brian P.
目的：探讨明显孤立葡萄膜瘤患者的全身表现频率和类型。设计：横断面观察性研究。方法：地点：单中心眼科遗传学门诊。研究人群：国家眼科研究所收治的99例葡萄膜缺损患者。观察程序：听力学测试、超声心动图、脑磁共振成像、肾脏超声和脊柱X线片结果。主要观察指标：系统检查异常发现的发生率。结果：葡萄膜缺损仅累及前段8例，仅累及后段23例，前后段同时受累68例。缺损眼最佳矫正视力(BCVA)>20/40者占45%，BCVA>20/60者占23%。在接受超声心动图检查的19名患者中，有10名(53%)存在异常，其中最常见的是腹间隔缺陷。接受肾脏超声检查的72名患者中有5名(7%)有异常发现，而接受脑部MRI检查的29名患者中有5名(17%)有异常发现。听力学检查发现75例患者中有13例(17%)异常，脊柱X线片显示异常10例(13%)。大多数发现不需要急性干预。结论：虽然有些患者有眼外异常的证据，但大多数常规临床检查的发现不需要急性干预，但也有一些需要随访。对缺损区患者进行系统评估的结果应谨慎解读，并考虑到他们的临床背景。(Elsevier Inc.出版)
PURPOSE: To investigate the frequency and types of systemic findings in patients with apparently isolated uveal coloboma.DESIGN: Cross-sectional observational study.METHODS: SETTING: Single-center ophthalmic genetics clinic. STUDY POPULATION: Ninety-nine patients with uveal coloboma seen at the National Eye Institute. OBSERVATIONAL PROCEDURE: Results of audiology testing, echocardiogram, brain magnetic resonance imaging, renal ultrasound, and total spine radiographs. MAIN OUTCOME MEASURE: Prevalence of abnormal findings on systemic testing.RESULTS: Uveal coloboma affected only the anterior segment in 8 patients, only the posterior segment in 23 patients, and both anterior and posterior segments in 68 patients. Best-corrected visual acuity (BCVA) of eyes with coloboma was >= 20/40 in 45% of eyes; 23% of eyes had BCVA of 20/60) in at least 1 eye. Ten of the 19 patients (53%) who underwent echocardiography had abnormalities, with ventral septal defects being the most prevalent. Abnormal findings were observed in 5 of 72 patients (7%) who had a renal ultrasound and in 5 of 29 patients (17%) who underwent a brain MRI. Audiology testing revealed abnormalities in 13 of 75 patients (17%), and spine radiographs showed anomalies in 10 of 77 patients (13%). Most findings required no acute intervention.CONCLUSIONS: Although some patients with coloboma had evidence of extraocular abnormalities, the majority of findings on routine clinical examination did not require acute intervention, but some warranted follow-up. Results from the systemic evaluation of patients with coloboma should be interpreted with caution and in view of their clinical context. (Published by Elsevier Inc.)