Department of Ophthalmology, Harbor-UCLA Medical Center, 1000 West Carson, Torrance, CA, 90502, USA.
UCLA Stein Eye Institute, 100 Stein Plaza Driveway, Los Angeles, CA, 90095, USA.
J Med Case Rep. 2023 Jun 19;17(1):255. doi: 10.1186/s13256-023-03985-z.
We report the first case of Purtscher-like retinopathy in a patient with 17q12 deletion-associated maturity-onset diabetes of the young.
A 19-year-old diabetic Hispanic male with history of cataracts and toe amputations presented with sudden onset of painless bilateral vision loss for 1 week with no associated trauma. Visual acuity was counting fingers at six feet in both eyes. Dilated retinal examination revealed bilateral peripapillary cotton wool spots and intraretinal hemorrhages, and significant subretinal and intraretinal fluid on optical coherence tomography. Fluorescein angiography revealed arteriolar staining and leakage around the disc with areas of capillary nonperfusion, supporting the diagnosis of Purtscher-like retinopathy. Systemic workup revealed multiple diabetic complications including chronic osteomyelitis of multiple toes, nonhealing diabetic foot ulcers, neurogenic bladder and bowel, and bilateral lower-extremity muscular neuropathies. Genetic evaluation revealed a 17q12 deletion, which is associated with maturity-onset diabetes of the young 5. On follow-up examination, he received a single intravitreal antivascular endothelial growth factor injection in the left eye (off label) for persistent macular edema. Although his retinal edema improved, his visual acuity remained poor.
The presentation of our patient's multiple diabetic complications along visual symptoms suggests Purtscher-like retinopathy can be a sequela of uncontrolled diabetes. Purtscher-like retinopathy is a rare but possible consideration in diabetic patients who present with acute-onset vision loss.
我们报告了首例与 17q12 缺失相关的青年发病型糖尿病相关的 Purtscher 样视网膜病变患者。
一名 19 岁的糖尿病西班牙裔男性,有白内障和脚趾截肢病史,因 1 周前无明显诱因出现双侧无痛性视力丧失而就诊,视力丧失突然发作,无相关外伤史。双眼视力在 6 英尺处仅能数指。散瞳眼底检查显示双侧视盘周围棉絮斑和视网膜内出血,光学相干断层扫描显示明显的视网膜下和视网膜内积液。荧光素血管造影显示动脉染色和盘周渗漏,伴有毛细血管无灌注区,支持 Purtscher 样视网膜病变的诊断。全身检查显示多种糖尿病并发症,包括多个脚趾的慢性骨髓炎、糖尿病足溃疡不愈合、神经性膀胱和肠,以及双侧下肢神经病变。基因评估显示 17q12 缺失,与青年发病型糖尿病 5 型相关。随访检查时,他在左眼接受了单次玻璃体内抗血管内皮生长因子注射(超适应证)治疗持续性黄斑水肿。尽管他的视网膜水肿有所改善,但他的视力仍然很差。
我们患者的多种糖尿病并发症和视力症状表明,Purtscher 样视网膜病变可能是未控制糖尿病的后遗症。在出现急性视力丧失的糖尿病患者中,Purtscher 样视网膜病变是一种罕见但可能的考虑因素。