Mandura Rahaf A, Radi Rwan E
Department of Ophthalmology, King Abdul-Aziz University, Jeddah, SAU.
College of Medicine, Umm Al-Qura University, Mecca, SAU.
Cureus. 2021 Jun 17;13(6):e15720. doi: 10.7759/cureus.15720. eCollection 2021 Jun.
Pseudoxanthoma elasticum, or Gronblad-Strandberg syndrome, is an inherited disorder that involves multiple organ systems. The characteristic degeneration and calcification of the elastic fibers caused by this disease were first observed by Ferdinand Jean Darrier in 1896. We report a case of a 27-year-old female who was diagnosed with pseudoxanthoma elasticum based on a skin biopsy prior to her presentation to our ophthalmology outpatient clinic. The past ocular history of the patient was unremarkable for any previous eye complaint or surgery. Her ocular and fundus examination showed pigmented grayish irregular post choroidal crack-like linear dehiscence, forming a network-like pattern, originating at the optic disc and extending radially involving the macular area and the posterior pole in both eyes, representing bilateral angioid streaks. There were no clinical or optical coherent tomographic signs of choroidal neovascularization. Periodic follow up for patients with pseudoxanthoma elasticum is recommended to detect choroidal neovascularization which is a sight-threatening complication. Ophthalmologists should be aware of this association as early recognition and treatment are vital to prevent irreversible visual loss.
弹性假黄瘤，又称格伦布兰德 - 斯特兰德伯格综合征，是一种累及多个器官系统的遗传性疾病。1896年，费迪南德·让·达里尔首次观察到由这种疾病引起的弹性纤维特征性退变和钙化。我们报告一例27岁女性病例，该患者在到我们眼科门诊就诊前，经皮肤活检被诊断为弹性假黄瘤。患者既往眼部病史无任何先前眼部疾病或手术史。她的眼部及眼底检查显示，色素沉着的灰白色不规则脉络膜后裂样线性裂隙，形成网状图案，起自视盘并呈放射状延伸，累及双眼黄斑区和后极部，表现为双侧血管样条纹。无脉络膜新生血管的临床或光学相干断层扫描征象。建议对弹性假黄瘤患者进行定期随访，以检测作为视力威胁性并发症的脉络膜新生血管。眼科医生应了解这种关联，因为早期识别和治疗对于预防不可逆视力丧失至关重要。
