32岁的糖尿病患者,视力逐渐丧失和晶状视网膜病变
Elodie Bousquet1,2, Sheena Khanna1, Delu Song3
1Retinal Disorders and Ophthalmic Genetics Division, Stein Eye Institute, University of California Los Angeles, David Geffen School of Medicine at UCLA, Los Angeles, California, United States.
Retinal cases & brief reports
|December 6, 2023
概括
一名糖尿病患者的严重视力丧失与高氧化症有关,这是一种导致视网膜血管封闭的疾病. 在腹腔透析患者的早期诊断对于预防视力损失至关重要.
科学领域:
- 眼科医生 眼科 眼科
- 腎臟病學 (nephrology) 是一種醫學專業.
- 医学遗传学 医学遗传学
背景情况:
- 过氧化症是一种代谢障碍,其特点是过度的氧化酸盐生产或积累.
- 慢性功能衰竭会影响氧酸盐的分泌,增加系统性氧化的风险.
- 视网膜参与高氧化症,虽然很少见,但可能导致显著的视力损伤.
研究的目的:
- 在患有高氧化症和慢性功能衰竭的患者中呈现严重的双边视网膜血管封闭病例.
- 突出视网膜氧化症的诊断挑战和临床表现.
- 强调早期检测和管理在预防视力丧失方面的重要性.
主要方法:
- 观察案例报告与医疗和成像记录的回顾性审查.
- 使用超广场 (UWF) 底部摄影和光素血管学 (UWF-FA).
- 采用光谱域光学连贯性断层扫描 (SD-OCT) 和OCT血管学,用于详细的视网膜成像.
主要成果:
- 一名32岁的糖尿病患者接受腹腔透析,出现严重的视力丧失.
- 视网膜检查显示了扩散性硬化血管,视网膜内晶体,几乎完全的血管封闭和毛细血管非 perfusion.
- 血清中氧化酸盐水平升高和异合体AGXT基因突变证实了1型自体递归原发性高氧化症.
结论:
- 慢性功能衰竭和饮食加剧的高氧化症导致了严重的视网膜血管封闭.
- 视网膜氧化应考虑在腹膜透析的患者中,有不明原因的视力丧失.
- 及时进行血液透析对于管理高氧化症和预防不可逆转的视网膜损伤至关重要.
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