Chen Judy J, Kalevar Ananda, Vora Robin A, Qian Ying, Gorenberg Peter H, Garcia-Kennedy Richard, Cunningham Emmett T
Department of Ophthalmology, California Pacific Medical Center, San Francisco, California.
West Coast Retina Medical Group, San Francisco, California.
Retin Cases Brief Rep. 2018;12 Suppl 1:S76-S80. doi: 10.1097/ICB.0000000000000642.
To describe a patient with confirmed transthyretin V30M form of familial amyloidosis who presented initially with isolated retinal angiopathy.
Retrospective chart review.
A 66-year-old woman presented with bilateral retinal angiopathy. Extensive workup for an infectious, inflammatory, or hypercoagulable cause was unrevealing. The patient subsequently developed bilateral neovascularization of the optic nerve and iris complicated by recurrent vitreous hemorrhages, which were treated with intravitreal bevacizumab and panretinal photocoagulation. The development of cardiac and gastrointestinal symptoms 5 years after presentation led to tissue biopsies that revealed both Congo red staining and apple-green birefringence in polarized light, confirming the diagnosis of systemic amyloidosis. Sequencing of the transthyretin gene confirmed the patient to be heterozygous for the common amyloidogenic V30M mutation.
The common transthyretin V30M form of familial amyloidotic polyneuropathy can rarely present with retinal angiopathy. Recurrent vitreous hemorrhages were treated successfully with intravitreal bevacizumab and panretinal photocoagulation.
描述一名确诊为转甲状腺素蛋白V30M型家族性淀粉样变性的患者，该患者最初表现为孤立性视网膜血管病变。
回顾性病历审查。
一名66岁女性出现双侧视网膜血管病变。对感染、炎症或高凝原因进行的全面检查未发现异常。该患者随后出现双侧视神经和虹膜新生血管形成，并伴有反复玻璃体积血，采用玻璃体内注射贝伐单抗和全视网膜光凝治疗。就诊5年后出现心脏和胃肠道症状，组织活检显示刚果红染色和偏振光下苹果绿双折射，确诊为系统性淀粉样变性。转甲状腺素蛋白基因测序证实该患者为常见淀粉样变性V30M突变的杂合子。
常见的转甲状腺素蛋白V30M型家族性淀粉样多神经病很少表现为视网膜血管病变。玻璃体内注射贝伐单抗和全视网膜光凝成功治疗了反复发生的玻璃体积血。
