Hospital Universitari Vall d'Hebron, Department of Ophthalmology, Barcelona, Spain.
Turk J Ophthalmol. 2023 Oct 19;53(5):318-321. doi: 10.4274/tjo.galenos.2023.48672.
Hemoglobin C (HbC) disease is an uncommon disease that is generally considered benign, causing only occasionally painless hematuria, osteomyelitis, and dental abnormalities. Ocular manifestations have rarely been described in these patients. Here we report a novel ophthalmological manifestation of the disease. A 20-year-old woman presented with progressive visual loss in her right eye due to tractional retinal detachment. The left eye was apparently normal, but wide-field fluorescence angiography showed mild peripheral ischemia with multiple vascular abnormalities. Vitrectomy was performed and the systemic workup revealed the presence of hemoglobinopathy C in heterozygous form. HbC disease can be sight-threating due to retinal proliferation, similar to sickle cell retinopathy. Patients affected with this disease should undergo regular surveillance. Ultra-wide angiography is a helpful examination to detect peripheral ischemia in the earlier stages.
血红蛋白 C（HbC）病是一种不常见的疾病，通常被认为是良性的，仅偶尔引起无痛性血尿、骨髓炎和牙齿异常。这些患者的眼部表现很少有描述。在这里，我们报告了该疾病的一种新的眼科表现。一名 20 岁女性因右眼前部牵拉性视网膜脱离导致进行性视力丧失就诊。左眼明显正常，但广角荧光血管造影显示多发性血管异常伴轻度周边缺血。行玻璃体切除术，全身检查显示存在杂合子形式的血红蛋白病 C。HbC 病可因视网膜增殖而导致视力丧失，类似于镰状细胞性视网膜病变。患有这种疾病的患者应定期进行监测。超宽视野血管造影是一种有助于早期发现周边缺血的检查方法。
