Background: Usher syndrome is the most common hereditary syndrome combining deafness and blindness. In the 2017 National Child Count of Children and Youth who are Deaf-Blind, Usher syndrome represented 329 of 10,000 children, but there were also at least 70 other etiologies of deaf-blindness documented. The purpose of this study was to analyze the work-up and ultimate diagnoses of 21 consecutive families who presented to the Genetic Eye-Ear Clinic (GEEC) at the University of Iowa. Our hypothesis was that most families referred to the GEEC would have initial and final diagnoses of Usher syndrome.Materials and Methods: Patients were identified through an IRB approved retrospective chart review of referrals to the GEEC between 2012 and 2019. Details about each patient's history, exam, and clinical and genetic work-up were recorded.Results: From 2012 to 2019, 21 families (25 patients) were referred to the collaborative GEEC. Overall molecular diagnostic rate in this cohort was 14/21 (67%). Evaluation resulted in a change of diagnosis in 11/21 (52%) families. Ultimately, there were eleven unique diagnoses including hereditary, non-hereditary, and independent causes of combined visual impairment and hearing loss. The most common diagnosis was Usher syndrome, which represented 6/21 (29%) families.Conclusions: Providing a correct diagnosis for patients with visual impairment and hearing loss can be challenging for clinicians and their patients, but it can greatly improve clinical care and outcomes. We recommend an algorithm that includes multidisciplinary collaboration, careful clinical evaluation, strategic molecular testing, and consideration of a broad differential diagnosis.

中文翻译：

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这是亚瑟综合症吗？视力障碍和听力损失患者的协同诊断和分子遗传学。


背景：亚瑟综合征是最常见的耳聋和失明相结合的遗传性综合征。在 2017 年全国聋盲儿童和青少年统计中，亚瑟综合症占 10,000 名儿童中的 329 名，但还记录了至少 70 种其他聋盲病因。本研究的目的是分析到爱荷华大学遗传眼耳诊所 (GEEC) 就诊的 21 个连续家庭的检查和最终诊断。我们的假设是，大多数转介至 GEEC 的家庭都会有亚瑟综合症的初始和最终诊断。材料和方法：通过 IRB 批准的 2012 年至 2019 年间转介至 GEEC 的回顾性图表审查来识别患者。每个患者的病史详细信息，结果：从 2012 年到 2019 年，21 个家庭（25 名患者）被转介至合作 GEEC。该队列的总体分子诊断率为 14/21 (67%)。评估导致 11/21 (52%) 个家庭的诊断发生改变。最终，共有 11 种独特的诊断，包括遗传性、非遗传性以及导致视力障碍和听力损失的独立原因。最常见的诊断是 Usher 综合征，占 6/21 (29%) 个家庭的比例。结论：为视力障碍和听力损失患者提供正确的诊断对于临床医生及其患者来说可能具有挑战性，但它可以极大地改善临床护理和结果。我们推荐的算法包括多学科合作、仔细的临床评估、战略性分子检测以及广泛的鉴别诊断的考虑。