Fledelius Hans C, Sandfeld Lisbeth, Rasmussen Åse Krogh, Madsen Christoffer V, Feldt-Rasmussen Ulla
Eye Departments, Rigshospitalet and Glostrup, Copenhagen University, Copenhagen, Denmark.
Acta Ophthalmol. 2015 May;93(3):258-64. doi: 10.1111/aos.12588. Epub 2014 Dec 9.
Enzyme replacement therapy (ERT) was offered from year 2001 to patients with Fabry disease. The ophthalmic experience was analysed, as part of a general 10-year status.
A retrospective observational series comprising 39 patients (25 females, 14 males) closely followed by the endocrinologists, and with regular ophthalmic control. Time of inclusion was when the option of ERT was started, at age 11-60 years. Eye data (standard eye examination, including retinal imaging) were incomplete in five, due to death or non-attendance, and five patients had refused treatment.
Vision was normal throughout, except in two young males with total unilateral central retinal artery occlusion, prior to and during enzyme replacement, respectively. Cornea verticillata and conjunctival vessel ectasies were common. Tortuosity of retinal arterioles and venules was recorded in eight and 18 patients, respectively, and phlebopathy in 22, although generally without evidence of loss of vessel wall integrity. Systemic vascular lesions with or without loss of function were recorded for kidney (n = 23), heart (n = 17) and brain (n = 7), and an association was suggested between nephropathy and abnormal morphology of retinal vessels.
Thirteen of 32 patients on ERT showed a reduction of corneal deposits over the study period. Abnormal ocular vessel morphology was a frequent finding. In contrast to the function loss related to systemic ischaemic lesions, we found no indication of impairment of visual parameters in 37. Compared to other Fabry series, two of 39 patients with serious unilateral occlusive retinal disease may appear a high number. The presence of retinal tortuosity is discussed, possibly reflecting haemodynamic events related to vessel wall deposits, but could also be 'constitutional', as part of the Fabry inheritance.
2001年起为法布里病患者提供酶替代疗法（ERT）。作为一项为期10年的总体状况分析的一部分，对眼科方面的情况进行了分析。
一项回顾性观察系列研究，纳入了39例患者（25例女性，14例男性），由内分泌科医生密切随访，并定期进行眼科检查。纳入时间为开始ERT治疗时，年龄在11至60岁之间。5例患者因死亡或未就诊，眼部数据（包括视网膜成像在内的标准眼科检查）不完整，另有5例患者拒绝治疗。
除了两名年轻男性分别在酶替代治疗前和治疗期间出现单侧视网膜中央动脉完全阻塞外，其余患者视力始终正常。角膜涡状浑浊和结膜血管扩张很常见。分别有8例和18例患者记录到视网膜小动脉和小静脉迂曲，22例患者记录到静脉病变，不过一般没有血管壁完整性丧失的证据。记录到有或无功能丧失的系统性血管病变的器官有肾脏（n = 23）、心脏（n = 17）和大脑（n = 7），提示肾病与视网膜血管形态异常之间存在关联。
在研究期间，32例接受ERT治疗的患者中有13例角膜沉积物减少。眼部血管形态异常是常见发现。与系统性缺血性病变相关的功能丧失不同，我们在37例患者中未发现视觉参数受损的迹象。与其他法布里病系列研究相比，39例患者中有2例患有严重的单侧视网膜阻塞性疾病，这一比例可能较高。讨论了视网膜迂曲的存在，其可能反映了与血管壁沉积物相关的血流动力学事件，但也可能是法布里病遗传特征的一部分，具有“先天性”。
