Beuran David-Ionuț, Constantin Camelia, Șerban Răzvan Constantin, Eftimie Lucian George, Cornăcel Cătălin
Department of Ophthalmology, "Dr. Carol Davila" Central Military University Emergency Hospital, Bucharest, Romania.
Department of Dermatology, "Dr. Carol Davila" Central Military University Emergency Hospital, Bucharest, Romania.
Rom J Ophthalmol. 2024 Oct-Dec;68(4):470-475. doi: 10.22336/rjo.2024.85.
Present the diagnosis and therapeutic approach in a patient with pseudoxanthoma elasticum and ocular involvement.
A 46-year-old patient presented for progressive loss of vision and metamorphopsias in the left eye. The ophthalmological examination showed angioid streaks and secondary choroidal neovascularization. The dermatologist performed an incisional biopsy of a skin area in the right axilla that showed white-yellow, discrete streaks. Histopathological examination confirmed the diagnosis of pseudoxanthoma elasticum. It was decided to start intravitreal injections with aflibercept. Three injections were made in the left eye with subsequent visual acuity improvement.
Angioid streaks are a rare retinal condition, and pseudoxanthoma elasticum is the most common association. Other systemic conditions are Ehlers-Danlos syndrome, Paget's disease, and hemoglobinopathies. Definite diagnosis requires skin lesions or calcified elastic fibers on pathological examination and angioid streaks of the retina. Choroidal neovascularization is a frequent complication and leads to vision loss. Intravitreal inhibitors of vascular endothelial growth factor are currently the first line of treatment.
Pseudoxanthoma elasticum has numerous systemic manifestations and requires a multidisciplinary team to be monitored and treated.
介绍一名患有弹性假黄瘤并累及眼部患者的诊断及治疗方法。
一名46岁患者因左眼视力进行性下降和视物变形前来就诊。眼科检查显示有血管样条纹和继发性脉络膜新生血管形成。皮肤科医生对右腋窝处的皮肤区域进行了切开活检，发现有白色至黄色的离散条纹。组织病理学检查确诊为弹性假黄瘤。决定开始玻璃体内注射阿柏西普。对左眼进行了三次注射，随后视力有所改善。
血管样条纹是一种罕见的视网膜疾病，弹性假黄瘤是最常见的相关病因。其他全身性疾病包括埃勒斯-当洛综合征、佩吉特病和血红蛋白病。明确诊断需要病理检查发现皮肤病变或钙化的弹性纤维以及视网膜血管样条纹。脉络膜新生血管形成是一种常见的并发症，可导致视力丧失。玻璃体内血管内皮生长因子抑制剂目前是一线治疗方法。
弹性假黄瘤有许多全身表现，需要多学科团队进行监测和治疗。
