Doolan Emer, Ryan Andrea
Ophthalmology Department, Royal Victoria Eye and Ear Hospital, Dublin, Ireland.
Case Rep Ophthalmol. 2022 Jan 11;13(1):1-8. doi: 10.1159/000521319. eCollection 2022 Jan-Apr.
The authors describe a case report of retinal angioid streaks (AS) in a patient with congenital dyserythropoietic anaemia (CDA) type II and compare the retinal findings to those of an affected first-degree relative without ocular manifestations of the disease. A 52-year-old man with a confirmed diagnosis of CDA type II has been dependent on treatment with regular transfusions and chelating agents. He presents with bilateral retinal AS. The subject's brother, who also has CDA type II, underwent splenectomy in childhood, and has required no treatment since then. He has no ocular manifestations of the disease. To the authors' knowledge, this is only the second time that the presence of retinal AS has been reported in a case of CDA type II. It has been reported more frequently with CDA types I and III. The milder course of disease in the subject's brother likely accounts for the differing retinal findings. The authors explore the pathophysiology of AS in this disease, and the differential diagnosis of chelating agent toxicity. Diagnostic uncertainty around retinal findings can lead to withholding of essential systemic treatment and inappropriate ophthalmological follow-up. It is recommended that all patients with CDA undergo eye examinations.
作者描述了一例患有II型先天性红细胞生成异常性贫血（CDA）患者的视网膜血管样条纹（AS）病例报告，并将该患者的视网膜检查结果与一名无该疾病眼部表现的一级亲属的检查结果进行了比较。一名确诊为II型CDA的52岁男性一直依赖定期输血和螯合剂治疗。他出现了双侧视网膜AS。该患者的兄弟也患有II型CDA，童年时接受了脾切除术，此后无需治疗。他没有该疾病的眼部表现。据作者所知，这是II型CDA病例中第二次报告视网膜AS的存在。在I型和III型CDA中报告更为频繁。该患者兄弟病情较轻的病程可能是导致视网膜检查结果不同的原因。作者探讨了该疾病中AS的病理生理学以及螯合剂毒性的鉴别诊断。视网膜检查结果的诊断不确定性可能导致停止必要的全身治疗和不适当的眼科随访。建议所有CDA患者都进行眼部检查。
