Neurofibromatosis type 1 (NF1) is a rare autosomal dominant disorder characterized by proliferation of cells from neural crest origin. The most common manifestations are cutaneous, neurologic, skeletal and ocular. The distinction of NF1 from other syndromes with multiple café-au-lait macules may be difficult in the pediatric age group, and ocular findings, especially Lisch nodules (i.e., melanocytic hamartomas on the irides), are a useful, early diagnostic tool. In recent years, novel ocular manifestations descriptively referred to as “choroidal abnormalities”, choroidal “hyperpigmented spots” and “retinal vascular abnormalities” have been recognized in NF1. Choroidal abnormalities (CA) appear as bright patchy nodules that can be best detected with near-infrared ocular coherence tomography imaging (NIR-OCT). Because of their high specificity and sensitivity for NF1, CA have been added as an ocular diagnostic criterion of NF1 as an alternative to Lisch nodules. Although CA are important ocular diagnostic criteria for NF1, the histologic correlates are controversial. We present the postmortem ocular pathology findings of an NF1 patient for whom clinical notes and ocular imaging were available. Findings in this patient included choroidal hyperpigmented spots on funduscopy and retinal vascular abnormalities, both of which have been reported to be closely associated with CA. Histologic examination of the eyes showed multiple clusters of melanocytes of varying sizes in the choroid. Pathologic review of 12 additional postmortem eyes from 6 NF1 patients showed multiple, bilateral choroidal melanocytic aggregates in all eyes. These findings suggest that the CA seen on NIR-OCT and the hyperpigmented spots seen clinically in NF1 patients are manifestations of multifocal choroidal melanocytic clusters, consistent with choroidal melanocytic hamartomas. Lisch nodules, often multiple, were present in all eyes with morphology that differed from the choroidal hamartomas. As such, although CA and Lisch nodules are melanocytic hamartomas, there are clear phenotypical differences in their morphologies.

1 型神经纤维瘤病 (NF1) 是一种罕见的常染色体显性遗传疾病，其特征是神经嵴来源的细胞增殖。最常见的表现是皮肤、神经、骨骼和眼部。在儿科年龄组中，将 NF1 与其他具有多发牛奶咖啡斑的综合征区分开来可能很困难，而眼部发现，尤其是 Lisch 结节（即虹膜上的黑素细胞错构瘤），是一种有用的早期诊断工具。近年来，NF1 中出现了新的眼部表现，被描述为“脉络膜异常”、脉络膜“色素沉着过度斑点”和“视网膜血管异常”。脉络膜异常 (CA) 表现为明亮的斑状结节，最好通过近红外眼相干断层扫描 (NIR-OCT) 进行检测。由于 CA 对 NF1 具有较高的特异性和敏感性，因此已将 CA 添加为 NF1 的眼部诊断标准，以替代 Lisch 结节。尽管 CA 是 NF1 的重要眼部诊断标准，但其组织学相关性仍存在争议。我们介绍了一名 NF1 患者的死后眼部病理学结果，该患者有临床记录和眼部影像学资料。该患者的检查结果包括眼底镜检查发现脉络膜色素沉着过度斑点和视网膜血管异常，据报道这两者都与 CA 密切相关。眼睛的组织学检查显示脉络膜中存在多个大小不同的黑素细胞簇。对 6 名 NF1 患者的另外 12 只死后眼睛进行的病理检查显示，所有眼睛均存在多个双侧脉络膜黑素细胞聚集。这些结果表明，NIR-OCT 上看到的 CA 和 NF1 患者临床上看到的色素沉着过度斑点是多灶性脉络膜黑素细胞簇的表现，与脉络膜黑素细胞错构瘤一致。所有眼睛中均存在 Lisch 结节，通常为多个，其形态与脉络膜错构瘤不同。因此，尽管 CA 和 Lisch 结节是黑素细胞错构瘤，但其形态存在明显的表型差异。