Department of Sense Organs, Sapienza University of Rome, Policlinico Umberto I, Viale del Policlinico 155, 00161, Rome, Italy.
Department of Dermatology and Venereology, Sapienza University of Rome, Policlinico Umberto I, Rome, Italy.
Orphanet J Rare Dis. 2022 Jun 13;17(1):223. doi: 10.1186/s13023-022-02369-8.
Neurofibromatosis Type 1 (NF1) is a rare neurocutaneous disorder transmitted in an autosomal dominant fashion, mainly affecting the nervous system, the eye and skin. Ocular diagnostic hallmarks of NF1 include iris Lisch nodules, optic gliomas, orbital and eyelid neurofibromas, eyelid café-au-lait spots. In recent years, a new ocular sign represented by choroidal abnormalities (CAs) has been characterized in NF1. The CAs, identified with near-infrared reflectance, have been reported with a frequency of up to 100% in NF1, and have recently been added to the actual diagnostic criteria for NF1. The present Letter to the journal is intended to provide an update on features and clinical significance of CAs in NF1. Moreover, the relation with other ocular manifestations recently described in NF1 including hyperpigmented spots and retinal microvascular abnormalities is discussed.
神经纤维瘤病 1 型（NF1）是一种罕见的神经皮肤遗传病，以常染色体显性方式遗传，主要影响神经系统、眼睛和皮肤。NF1 的眼部诊断特征包括虹膜神经纤维瘤、视神经胶质瘤、眼眶和眼睑神经纤维瘤、眼睑牛奶咖啡斑。近年来，在 NF1 中发现了一种以脉络膜异常（CAs）为代表的新的眼部征象。这些 CAs 可以通过近红外反射来识别，在 NF1 中的发生率高达 100%，最近已被添加到 NF1 的实际诊断标准中。本期刊信函旨在提供 NF1 中 CAs 的特征和临床意义的最新信息。此外，还讨论了与 NF1 中最近描述的其他眼部表现（包括色素沉着斑和视网膜微血管异常）的关系。
