Marques João Pedro, Bernardes João, Geada Sara, Soares Mário, Teixeira Dora, Farinha Cláudia, Pires Isabel, Cachulo Maria Luz, Silva Rufino
Ophthalmology Unit, Centro de Responsabilidade Integrado em Oftalmologia (CRIO), Centro Hospitalar e Universitário de Coimbra (CHUC), Praceta Prof. Mota Pinto, 3000-075, Coimbra, Portugal.
University Clinic of Ophthalmology, Faculty of Medicine, University of Coimbra (FMUC), Coimbra, Portugal.
Graefes Arch Clin Exp Ophthalmol. 2021 Apr;259(4):873-882. doi: 10.1007/s00417-020-04979-z. Epub 2020 Oct 19.
To characterize morphological changes in the retina and to report the frequency and natural history of non-exudative macular neovascularization (MNV) in a cohort of pseudoxanthoma elasticum (PXE).
A single-center, retrospective study was complemented by a cross-sectional examination. Consecutive patients with a definitive genetic and/or clinical diagnosis of PXE, visiting our department between January 2019 and December 2019, and with a minimum follow-up of 6 months were recruited. Baseline data were retrieved from each patient file. Additionally, a cross-sectional examination comprising color fundus photography, spectral-domain optical coherence tomography (SD-OCT), OCT-Angiography (OCT-A), and fundus autofluorescence was performed. The presence of typical PXE-related findings, as well as related complications, was multimodally evaluated. The prevalence and natural history of non-exudative MNV were assessed. All images were graded by two independent graders.
Forty-eight eyes from 24 patients (mean age 59.11 ± 18.14) with a median follow-up of 53.00 months were included. Angioid streaks and peau d'orange were observed in 46/48 and 42/48 eyes, while MNV was present in 75.00% of the cohort. The prevalence of non-exudative MNV was 33.33% (6/18). In the 2 eyes that developed exudation, time to conversion was 9.50 ± 4.95 months. No significant difference in visual acuity was found between eyes with non-exudative MNV and those with no signs of MNV.
We have shown that non-exudative MNV is a frequent finding in PXE but the majority of eyes did not develop exudation during follow-up. Our results are a clear evidence of the utility of OCT-A in the management of PXE.
描述弹性假黄瘤（PXE）患者队列中视网膜的形态学变化，并报告非渗出性黄斑新生血管（MNV）的发生率及自然病程。
一项单中心回顾性研究辅以横断面检查。纳入2019年1月至2019年12月期间到我院就诊、确诊为PXE且有明确基因和/或临床诊断、随访至少6个月的连续患者。从每位患者病历中检索基线数据。此外，进行了包括彩色眼底照相、光谱域光学相干断层扫描（SD-OCT）、OCT血管造影（OCT-A）和眼底自发荧光的横断面检查。对典型的PXE相关表现以及相关并发症进行多模式评估。评估非渗出性MNV的患病率和自然病程。所有图像由两名独立的分级人员进行分级。
纳入24例患者（平均年龄59.11±18.14岁）的48只眼，中位随访时间为53.00个月。46/48只眼观察到血管样条纹，42/48只眼观察到橘皮样改变，而该队列中75.00%存在MNV。非渗出性MNV的患病率为33.33%（6/18）。在发生渗出的2只眼中，转变时间为9.50±4.95个月。非渗出性MNV的眼与无MNV体征的眼之间在视力上未发现显著差异。
我们已表明非渗出性MNV在PXE中很常见，但大多数眼在随访期间未发生渗出。我们的结果明确证明了OCT-A在PXE管理中的实用性。
