ABSTRACT

Background: Retinal astrocytic hamartoma (RAH) is a tumor that can be sporadic or in the context of tuberous sclerosis complex (TSC) and has been reported to be associated with neurofibromatosis type 1 (NF1) in a few cases.

Patient and methods: A 65-year-old male patient with NF1 was referred for ophthalmological evaluation. Comprehensive examination, near-infrared reflectance (NIR), spectral-domain optical coherence tomography (SDOCT), fluorescein angiography (FFA), and indocyanine green angiography (ICGA) were carried out. The follow-up of the patient was at 4 and 7 years.

Results: Best-corrected visual acuity (BCVA) was 20/20 in both eyes. Anterior segment examination revealed bilateral Lisch nodules. Fundus examination was unremarkable but at NIR and SDOCT the patient presented choroidal hamartoma, microvascular retinal alterations, and enlarged choroidal vessels in both eyes. NIR also revealed an unusual area of peripapillary hyporeflectivity in the right eye. On SDOCT, this corresponded to an elevated peripapillary mass characterized by intralesional optically empty cavities in the retinal nerve fiber layer (RNFL) and ganglion cell layer-inner plexiform layer (GCL-IPL), diagnosed as a RAH. Four years later, BCVA was 20/25 with a retinal schisis departing from the lesion to the macula. At 7 years, BCVA was stable at 20/25, the lesion was smaller, and there was a slight reduction of the schisis.

Conclusion: RAH is a rare finding in NF1 and the translucent type has not been previously reported. RAH in NF1 has a peripapillary location and demonstrates clinically unpredictable behavior; thus, close monitoring with multimodal imaging is advisable.

摘要

背景：视网膜星形细胞错构瘤 (RAH) 是一种肿瘤，可以是散发性的，也可以是在结节性硬化症 (TSC) 的背景下，据报道在少数情况下与 1 型神经纤维瘤病 (NF1) 相关。

患者和方法：一名 65 岁男性 NF1 患者被转诊进行眼科评估。进行了综合检查、近红外反射（NIR）、光谱域光学相干断层扫描（SDOCT）、荧光素血管造影（FFA）和吲哚菁绿血管造影（ICGA）。患者的随访时间分别为 4 年和 7 年。

结果：双眼的最佳矫正视力 (BCVA) 为 20/20。前段检查显示双侧 Lisch 结节。眼底检查无异常，但在 NIR 和 SDOCT 上，患者出现脉络膜错构瘤、视网膜微血管改变和双眼脉络膜血管扩大。NIR 还显示右眼有一个不寻常的视盘周围低反射区。在 SDOCT 上，这对应于升高的视盘周围肿块，其特征是视网膜神经纤维层 (RNFL) 和神经节细胞层 - 内丛状层 (GCL-IPL) 中的病灶内光学空腔，被诊断为 RAH。四年后，BCVA 为 20/25，视网膜裂隙从病变部位延伸至黄斑部。7年时BCVA稳定在20/25，病灶较小，劈裂略有减轻。

结论：RAH 在 NF1 中是一种罕见的发现，以前没有报道过半透明型。NF1 中的 RAH 位于乳头周围，表现出临床上不可预测的行为；因此，建议使用多模态成像进行密切监测。