Wu Frances, Mukai Shizuo
Retina Service, Massachusetts Eye and Ear, Boston, MA, USA.
Department of Ophthalmology, Harvard Medical School, Boston, MA, USA.
J Vitreoretin Dis. 2022 Sep 8;7(1):70-73. doi: 10.1177/24741264221117013. eCollection 2023 Jan-Feb.
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.
A retrospective chart review was performed.
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.
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.
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。
进行回顾性病历审查。
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。
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。
