PDF(Pubmed)
Abstract：
A number of congenital and inherited diseases present with both ocular and psychiatric features. The genetic inheritance and phenotypic variants play a key role in disease severity. Early recognition of the signs and symptoms of those disorders is critical to earlier intervention and improved prognosis. Typically, the associations between these two medical subspecialties of ophthalmology and psychiatry are poorly understood by most practitioners so we hope to provide a narrative review to improve the identification and management of these disorders. We conducted a comprehensive review of the literature detailing the diseases with ophthalmic and psychiatric overlap that were more widely represented in the literature. Herein, we describe the clinical features, pathophysiology, molecular biology, diagnostic tests, and the most recent approaches for the treatment of these diseases. Recent studies have combined technologies for ocular and brain imaging such as optical coherence tomography (OCT) and functional imaging with genetic testing to identify the genetic basis for eye-brain connections. Additional work is needed to further explore these potential biomarkers. Overall, accurate, efficient, widely distributed and non-invasive tests that can help with early recognition of these diseases will improve the management of these patients using a multidisciplinary approach.
摘要：
许多先天性和遗传性疾病同时具有眼部和精神病学特征。遗传和表型变异在疾病严重程度中起关键作用。早期识别这些疾病的体征和症状对于早期干预和改善预后至关重要。通常,大多数医师对眼科和精神病学这两个亚专科之间的关联了解甚少,因此我们希望提供叙述性综述,以改善这些疾病的识别和治疗.我们对文献进行了全面回顾，详细介绍了文献中更广泛代表的眼科和精神病学重叠疾病。在这里，我们描述了临床特征，病理生理学,分子生物学,诊断测试,以及治疗这些疾病的最新方法。最近的研究将光学相干断层扫描（OCT）和功能成像等眼部和脑部成像技术与遗传测试相结合，以确定眼脑连接的遗传基础。需要额外的工作来进一步探索这些潜在的生物标志物。总的来说,准确,高效,可以帮助早期识别这些疾病的广泛分布和非侵入性测试将使用多学科方法改善这些患者的管理。
