Purposes: To explore OCT-A abnormalities in CHM carriers

Methods: CHM carriers and age-matched controls were consecutively enrolled at the Eye Clinic in Florence. All patients underwent a complete ophthalmic examination, fundus photography, fundus autofluorescence (FAF) and OCT examinations. OCT-A images of the superficial capillary plexus (SCP), deep capillary plexus (DCP) and choriocapillaris slab (CC) were acquired and analyzed using ImageJ software to detect and quantify vascular density.

Results: Six patients (12 eyes) and 8 age-matched controls (16 eyes) were included in our study. The mean age was 45.5 ± 16.3 years (range 15–61) for the CHM carriers and 46.6 ± 12.2 (range 18–54) for controls. All CHM carriers showed fundus abnormalities. The detected mean central retinal thickness (CRT) (220 ± 18.34 vs 227 ± 15.46; p = .342) and choroidal central thickness (CCT) (271 ± 54.28 vs 275 ± 38.36; p = .760) did not differ between the carrier and the control group, respectively. Quantitative analysis of the inner retinal vasculature disclosed no significant difference of both SCP (p = .437) and DCP (p = .859) vessel density compared to the control group. Of note, a mild reduction on the vascular flow of the CC could be detected in the carrier group compared to the control group (78.896 ± 13.972 vs 80.008 ± 10.862; p = .045).

Conclusions: OCT-A allows us to underline the role of the retinal pigment epithelium in the CHM pathophysiology. Central inner retinal and choriocapillaris vascularization were preserved although the RPE was always involved in the CHM carrier: this could support a secondary role of vascular impairment in the natural history of the disease.

目的：探讨CHM携带者的OCT-A异常

方法：CHM携带者和与年龄匹配的对照被连续纳入佛罗伦萨眼科诊所。所有患者均接受了全面的眼科检查，眼底照相，眼底自发荧光（FAF）和OCT检查。使用ImageJ软件获取并分析浅表毛细血管丛（SCP），深毛细血管丛（DCP）和脉络膜毛细血管板（CC）的OCT-A图像，以检测和量化血管密度。

结果：本研究包括6例患者（12眼）和8例年龄匹配的对照（16眼）。CHM携带者的平均年龄为45.5±16.3岁（范围15-61），对照组为46.6±12.2（范围18-54）。所有CHM携带者均显示眼底异常。检测到的平均视网膜中央厚度（CRT）（220±18.34 vs 227±15.46; p = .342）和脉络膜中央厚度（CCT）（271±54.28 vs 275±38.36; p = .760）在载体之间没有差异和对照组。对视网膜内部脉管系统的定量分析显示，SCP（p = .437）和DCP（p= .859）与对照组相比的血管密度。值得注意的是，与对照组相比，在载体组中CC的血管流量有轻度降低（78.896±13.972对80.008±10.862；p = .045）。

结论：OCT-A使我们能够强调视网膜色素上皮在CHM病理生理中的作用。尽管RPE始终参与CHM携带者，但中央视网膜内部和脉络膜毛细血管的血管化得以保留：这可能支持血管损害在疾病自然史中的次要作用。