Department of Sense Organs, Sapienza University of Rome, 00161 Rome, Italy.
Int J Mol Sci. 2023 Aug 30;24(17):13481. doi: 10.3390/ijms241713481.
Neurofibromatosis type 1 (NF1) is a rare inherited neurocutaneous disorder with a major impact on the skin, nervous system and eyes. The ocular diagnostic hallmarks of this disease include iris Lisch nodules, ocular and eyelid neurofibromas, eyelid café-au-lait spots and optic pathway gliomas (OPGs). In the last years, new manifestations have been identified in the ocular district in NF1 including choroidal abnormalities (CAs), hyperpigmented spots (HSs) and retinal vascular abnormalities (RVAs). Recent advances in multi-modality imaging in ophthalmology have allowed for the improved characterization of these clinical signs. Accordingly, CAs, easily detectable as bright patchy nodules on near-infrared imaging, have recently been added to the revised diagnostic criteria for NF1 due to their high specificity and sensitivity. Furthermore, subclinical alterations of the visual pathways, regardless of the presence of OPGs, have been recently described in NF1, with a primary role of neurofibromin in the myelination process. In this paper, we reviewed the latest progress in the understanding of choroidal and retinal abnormalities in NF1 patients. The clinical significance of the recently revised diagnostic criteria for NF1 is discussed along with new updates in molecular diagnosis. New insights into NF1-related neuro-ophthalmic manifestations are also provided based on electrophysiological and optical coherence tomography (OCT) studies.
神经纤维瘤病 1 型（NF1）是一种罕见的遗传性神经皮肤疾病，主要影响皮肤、神经系统和眼睛。这种疾病的眼部诊断特征包括虹膜神经纤维瘤、眼部和眼睑神经纤维瘤、眼睑咖啡牛奶斑和视神经胶质瘤（OPG）。在过去的几年中，NF1 眼部区域已经确定了新的表现，包括脉络膜异常（CA）、色素沉着斑（HS）和视网膜血管异常（RVA）。眼科多模态成像的最新进展使得这些临床体征的特征得到了改善。因此，由于其高特异性和敏感性，近红外成像上易检测到的明亮斑片状结节的 CA 最近被添加到 NF1 的修订诊断标准中。此外，无论是否存在 OPG，NF1 中最近都描述了视觉通路的亚临床改变，神经纤维瘤蛋白在髓鞘形成过程中起主要作用。本文综述了 NF1 患者脉络膜和视网膜异常理解方面的最新进展。讨论了最近修订的 NF1 诊断标准的临床意义，并介绍了分子诊断的新进展。还根据电生理学和光学相干断层扫描（OCT）研究提供了 NF1 相关神经眼科表现的新见解。
