一名患有弹性假黄瘤和考登综合征患者的难治性脉络膜新生血管形成
Refractory Choroidal Neovascularization in a Patient With Pseudoxanthoma Elasticum and Cowden Syndrome.
作者信息
Wu Frances, Mukai Shizuo
机构信息
Retina Service, Massachusetts Eye and Ear, Boston, MA, USA.
Department of Ophthalmology, Harvard Medical School, Boston, MA, USA.
出版信息
J Vitreoretin Dis. 2022 Sep 8;7(1):70-73. doi: 10.1177/24741264221117013. eCollection 2023 Jan-Feb.
PURPOSE
To describe a patient with concurrent pseudoxanthoma elasticum (PXE) and Cowden syndrome who developed choroidal neovascularization (CNV) secondary to angioid streaks. The CNV presented at a young age and was relatively refractory to intravitreal antivascular endothelial growth factor (anti-VEGF) therapy.
METHODS
A retrospective chart review was performed.
RESULTS
A 32-year-old man was treated for bilateral sequential CNV over 11 years. Good visual acuity was maintained with 53 anti-VEGF injections in the right eye and 82 injections in the left eye. On average, 1 injection was administered every 1.7 months in each eye to control the exudation. A skin biopsy and genetic testing confirmed a diagnosis of PXE. He was also found to harbor a mutation consistent with Cowden syndrome.
CONCLUSIONS
The concurrent mutation lends a possible explanation for the relative resistance of CNV to anti-VEGF therapy in this patient with PXE. Phosphatase and tensin homolog is a tumor suppressor that negatively regulates the VEGF pathway.
目的
描述一名患有弹性假黄瘤（PXE）和考登综合征的患者，其因血管样条纹继发脉络膜新生血管（CNV）。该CNV在年轻时出现，对玻璃体内抗血管内皮生长因子（抗VEGF）治疗相对耐药。
方法
进行回顾性病历审查。
结果
一名32岁男性在11年期间接受了双侧序贯性CNV治疗。右眼注射53次抗VEGF药物，左眼注射82次，视力保持良好。平均每只眼每1.7个月注射1次以控制渗出。皮肤活检和基因检测确诊为PXE。还发现他携带与考登综合征一致的突变。
结论
同时存在的突变可能解释了该PXE患者的CNV对抗VEGF治疗相对耐药的原因。磷酸酶和张力蛋白同源物是一种肿瘤抑制因子，对VEGF途径起负调节作用。
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