Yamashita Kazuya, Hashizume Kento, Fukuda Yasumasa, Sato Rio, Ozawa Nobuhiro, Kubono Hirohisa, Kawamura Mari, Suzuki Kotaro
Department of Ophthalmology, Keiyu Hospital, Yokohama, Kanagawa, Japan.
Department of Ophthalmology, National Hospital Organization Tokyo Medical Center, Meguro-ku, Tokyo, Japan.
Case Rep Ophthalmol Med. 2025 May 21;2025:9286332. doi: 10.1155/crop/9286332. eCollection 2025.
Pseudoxanthoma elasticum (PXE) is a systemic disorder that affects the skin, eyes, and vascular system. It commonly presents with retinal angioid streaks (ASs) and can lead to vision loss due to subretinal neovascularizations and macular atrophy. Diagnosis is confirmed through skin biopsies showing calcified elastic fibers or identifying biallelic ABCC6 pathogenic variants. This case report is novel as it describes the clinical course of choroidal neovascularization (CNV) secondary to PXE treated with vitrectomy and intravitreal ranibizumab and aflibercept injections in both eyes. A 68-year-old woman presented with vision loss in her right eye. Her medical history included hypertension, uterine fibroids, and multiple drug allergies. Ophthalmic examination revealed radial AS around the optic discs and subretinal hemorrhages in the right eye. Fluorescein angiography and optical coherence tomography confirmed CNV and fresh subretinal hemorrhage. A series of vitrectomies and intravitreal injections of ranibizumab and aflibercept were performed to manage the CNV and submacular hemorrhage. Despite recurrence, subsequent surgeries stabilized her condition, improving her best-corrected visual acuity to 20/125 in the right eye over 6 years. A skin biopsy confirmed the diagnosis of PXE, a condition she had overlooked for over 30 years. This case emphasizes the importance of early detection of AS through thorough fundus examination, alongside comprehensive evaluation for systemic conditions. Management of CNV in PXE involves the prompt use of intravitreal anti-VEGF injections and vitrectomy with tissue plasminogen activator (tPA) for controlling CNV activity and submacular hemorrhage. Ophthalmologists should consider PXE in patients presenting with characteristic skin and eye findings and refer them for dermatological evaluation as necessary.
弹性假黄瘤（PXE）是一种影响皮肤、眼睛和血管系统的全身性疾病。它通常表现为视网膜血管样条纹（ASs），并可因视网膜下新生血管形成和黄斑萎缩导致视力丧失。通过皮肤活检显示钙化弹性纤维或鉴定双等位基因ABCC6致病变体来确诊。本病例报告具有新颖性，因为它描述了双眼玻璃体切除术联合玻璃体内注射雷珠单抗和阿柏西普治疗继发于PXE的脉络膜新生血管（CNV）的临床过程。一名68岁女性因右眼视力丧失就诊。她的病史包括高血压、子宫肌瘤和多种药物过敏。眼科检查发现右眼视盘周围有放射状AS和视网膜下出血。荧光素血管造影和光学相干断层扫描证实了CNV和新鲜的视网膜下出血。为了治疗CNV和黄斑下出血，进行了一系列玻璃体切除术以及玻璃体内注射雷珠单抗和阿柏西普。尽管复发，但后续手术稳定了她的病情，在6年时间里将她右眼的最佳矫正视力提高到了20/125。皮肤活检确诊为PXE，而她已经忽视这种疾病超过30年了。本病例强调了通过全面的眼底检查早期发现AS的重要性，同时要对全身状况进行综合评估。PXE中CNV的治疗包括及时使用玻璃体内抗VEGF注射以及联合组织纤溶酶原激活剂（tPA）进行玻璃体切除术，以控制CNV活动和黄斑下出血。眼科医生对于出现特征性皮肤和眼部表现的患者应考虑PXE，并在必要时将他们转诊进行皮肤科评估。
