Background/aims To determine the association of age, presence of optic nerve head drusen (ONHD) and number of previous intravitreal anti-vascular endothelial growth factor (anti-VEGF) injections with inner retinal layer thicknesses in patients with pseudoxanthoma elasticum (PXE). Methods In this retrospective case–control study, longitudinal spectral-domain optical coherence tomography imaging data from patients with PXE were compared with controls. A custom deep-learning-based segmentation algorithm was trained and validated to quantify the retinal nerve fibre layer (RNFL) and ganglion cell layer (GCL). The association of age, number of anti-VEGF injections and ONHD with the RNFL and GCL thickness in the outer ETDRS subfields as dependent variables was investigated using mixed model regression. Results Fourty-eight eyes of 30 patients with PXE were compared with 100 healthy eyes. The mean age was 52.5±12.9 years (range 21.3–68.2) for patients and 54.2±18.7 years (range 18.0–84.5) for controls. In patients, ONHD were visible in 15 eyes from 13 patients and 31 eyes had received anti-VEGF injections. In the multivariable analysis, age (−0.10 µm/year, p<0.001), the diagnosis of PXE (−2.03 µm, p=0.005) and an interaction term between age and the presence of ONHD (−0.20 µm/year, p=0.001) were significantly associated with the GCL thickness. Including the number of intravitreal injections did not improve the model fit. The RNFL thickness was not significantly associated with any of these parameters. Conclusions This study demonstrates a significant association of ageing and ONHD with GCL thinning in patients with PXE, but not with the number of anti-VEGF injections. Given the severity of inner retinal degeneration in PXE, a clinical trial investigating neuroprotective therapy warrants consideration. Data are available upon reasonable request.

中文翻译：

---

弹性假黄瘤与视神经乳头玻璃膜疣相关的内层视网膜变性

背景/目的 确定年龄、视神经乳头玻璃膜疣 (ONHD) 的存在和既往玻璃体内抗血管内皮生长因子 (抗 VEGF) 注射次数与弹性假黄瘤 (PXE) 患者视网膜内层厚度的关联。方法 在这项回顾性病例对照研究中，将 PXE 患者的纵向谱域光学相干断层扫描成像数据与对照组进行了比较。对基于深度学习的自定义分割算法进行了训练和验证，以量化视网膜神经纤维层 (RNFL) 和神经节细胞层 (GCL)。使用混合模型回归研究了年龄、抗 VEGF 注射次数和 ONHD 与外部 ETDRS 子区域中作为因变量的 RNFL 和 GCL 厚度的关联。结果 30例PXE患者48只眼与100只健康眼进行比较。患者的平均年龄为 52.5±12.9 岁（范围 21.3-68.2），对照组的平均年龄为 54.2±18.7 岁（范围 18.0-84.5）。在患者中，ONHD 在 13 名患者的 15 只眼中可见，31 只眼接受了抗 VEGF 注射。在多变量分析中，年龄（-0.10 µm/年，p<0.001）、PXE 的诊断（-2.03 µm，p=0.005）以及年龄和 ONHD 存在之间的相互作用项（-0.20 µm/年，p =0.001) 与 GCL 厚度显着相关。包括玻璃体内注射的次数并没有提高模型的拟合度。RNFL 厚度与这些参数中的任何一个都没有显着相关性。结论 本研究表明，在 PXE 患者中，衰老和 ONHD 与 GCL 变薄显着相关，但与抗 VEGF 注射次数无关。鉴于 PXE 中视网膜内变性的严重性，一项研究神经保护疗法的临床试验值得考虑。可根据合理要求提供数据。