Assessment of vascular tortuosity in 22q11.2 deletion syndrome using optical coherence tomography angiography

IF 2.6 3区医学 Q2 ONCOLOGY

Photodiagnosis and Photodynamic Therapy Pub Date : 2025-04-18 DOI:10.1016/j.pdpdt.2025.104598

Luca Lucchino , Marta Armentano , Giacomo Visioli , Alessandro Beccia , Giuseppe Maria Albanese , Fabiana Mallone , Carolina Putotto , Federica Pulvirenti , Magda Gharbiya , Alessandro Lambiase , Marco Marenco

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引用次数: 0

Abstract

Purpose

To quantify retinal vascular tortuosity and assess microvascular alterations in 22q11.2 deletion syndrome (22q11.2DS) using optical coherence tomography angiography (OCTA).

Methods

This observational cross-sectional study analyzed 108 eyes from 27 patients with 22q11.2DS and 27 age- and sex-matched controls. OCTA parameters included vascular density in the superficial and deep capillary plexuses (SCP, DCP), radial peripapillary capillaries (RPC), and foveal avascular zone (FAZ). A skeletonized vascular model was generated from 6 mm × 6 mm OCTA images of the superficial plexus after Otsu binarization using Fiji (ImageJ). The vascular tortuosity index (VTI) was computed as the ratio of total vessel length to Euclidean distance via the AnalyzeSkeleton function. A generalized estimating equation (GEE) model accounted for intra-eye correlation, and a probit regression model identified OCTA predictors of 22q11.2DS.

Results

OCTA revealed significantly lower vascular density in both SCP and DCP in 22q11.2DS patients. DCP density was reduced across all regions, including whole-image (p < 0.001), superior (p < 0.001), inferior (p < 0.001), and foveal regions (p = 0.020). No significant differences were found in FAZ area or RPC density. VTI was significantly higher in 22q11.2DS (p = 0.001). Probit regression identified DCP whole-image density (p = 0.009) and VTI (p = 0.028) as predictors of 22q11.2DS, with a pseudo-R² of 0.23.

Conclusions

VTI was identified as a predictor of 22q11.2DS, providing an objective measure of retinal vascular tortuosity. OCTA revealed previously unrecognized microvascular alterations, supporting its use as a non-invasive tool for vascular assessment in this population.

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使用光学相干断层扫描血管造影评估22q11.2缺失综合征的血管扭曲

目的利用光学相干断层扫描血管造影（OCTA）定量研究22q11.2缺失综合征（22q11.2 ds）患者视网膜血管扭曲程度并评估微血管改变。方法本观察性横断面研究分析了27例22q11.2DS患者的108只眼睛和27例年龄和性别匹配的对照组。OCTA参数包括浅、深毛细血管丛（SCP， DCP）、径向乳头周围毛细血管（RPC）和中央凹无血管区（FAZ）的血管密度。使用Fiji进行Otsu二值化后，对浅表神经丛的6 mm × 6 mm OCTA图像进行骨胳化血管模型生成（ImageJ）。通过AnalyzeSkeleton函数计算血管弯曲指数（VTI）为血管总长度与欧氏距离的比值。广义估计方程（GEE）模型解释了眼内相关性，概率回归模型确定了22q11.2DS的OCTA预测因子。结果socta显示22q11.2DS患者的SCP和DCP血管密度均明显降低。所有区域的DCP密度均降低，包括整幅图像(p <；0.001)，优等(p <；0.001)，次等(p <；0.001)和中央凹区（p = 0.020）。FAZ面积和RPC密度无显著性差异。VTI在22q11.2DS组显著升高（p = 0.001）。Probit回归发现DCP全像密度（p = 0.009）和VTI （p = 0.028）是22q11.2DS的预测因子，伪r²为0.23。结论svti可作为22q11.2DS的预测因子，为视网膜血管扭曲提供了客观的指标。OCTA显示了以前未被识别的微血管改变，支持其作为该人群血管评估的非侵入性工具。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Photodiagnosis and Photodynamic Therapy ONCOLOGY-

CiteScore

5.80

自引率

24.20%

发文量

509

审稿时长

50 days

期刊介绍： Photodiagnosis and Photodynamic Therapy is an international journal for the dissemination of scientific knowledge and clinical developments of Photodiagnosis and Photodynamic Therapy in all medical specialties. The journal publishes original articles, review articles, case presentations, "how-to-do-it" articles, Letters to the Editor, short communications and relevant images with short descriptions. All submitted material is subject to a strict peer-review process.