神经皮肤疾病的视网膜表现。
Retinal manifestations of the neurocutaneous disorders.
机构信息
Department of Ophthalmology, New York-Presbyterian/Weill Cornell Medical Center, New York, New York.
Retina Associates of Orange County, Laguna Hills, California, USA.
出版信息
Curr Opin Ophthalmol. 2020 Nov;31(6):549-562. doi: 10.1097/ICU.0000000000000712.
PURPOSE OF REVIEW
The neurocutaneous disorders are a genetically and phenotypically diverse group of congenital syndromes characterized by cutaneous, ocular, and central nervous system manifestations. This review provides an overview of the clinical features and retinal findings in selected neurocutaneous disorders.
RECENT FINDINGS
Advances in genetics and diagnostic retinal and neuroimaging allow for the recognition of retinal features of common neurocutaneous syndromes and for improved characterization of rarer entities based on previously underdiagnosed or unrecognized retinal findings.
SUMMARY
Better characterization of the neurocutaneous disorders allows for earlier recognition and the potential for expeditious vision-saving and life-saving treatment.
目的综述
神经皮肤疾病是一组具有遗传和表型多样性的先天性综合征，其特征为皮肤、眼部和中枢神经系统表现。本综述概述了几种神经皮肤疾病的临床特征和视网膜表现。
最近的发现
遗传学、视网膜诊断和神经影像学的进步，使得常见神经皮肤综合征的视网膜特征得到识别，并根据以前未被诊断或未被认识到的视网膜表现，对较罕见的疾病进行更好的特征描述。
总结
更好地描述神经皮肤疾病，可以更早地识别，并有可能进行快速的、有助于保留视力和挽救生命的治疗。
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