■从Türkiye的三级眼部护理中心报告法布里病(FD)患者的眼部表现。
■这个前景,横断面研究包括15例FD患者的30只眼。FD的诊断是基于临床发现的组合,遗传分析,和生化评价。所有参与者都接受了详细的眼科检查,特别关注FD的典型眼部特征(角膜,结膜动脉瘤,白内障,视网膜血管弯曲)。
■平均年龄为45±17岁(范围:22-75岁),女性/男性比例为2:3。所有患者都有弯曲的结膜血管,12例患者(80%)有结膜动脉瘤。10例(66.6%)患者出现角膜炎,4例(26.6%)晶状体混浊,8例(53.3%)患者视网膜血管弯曲。所有患者至少有两种不同的眼部表现;大多数(3个杂合子/7个半合子)合并有角膜斜纹和结膜血管异常。结膜,角膜,5例半合子患者(33.3%)同时受累。一名半合子患者的双眼均有与FDD相关的眼部表现。
■据我们所知,这项研究首次描述了土耳其人群FD的眼部表现。虽然角膜斜视被认为是FD的标志,大约三分之一的患者不存在这种情况.此外,白内障,FD的另一个众所周知的特征,仅有26.6%的患者出现。仅结膜血管异常在FD中似乎相当罕见,尽管它经常伴随其他眼部表现。因此,识别其他轻度发现并特别考虑其相关性可能会增加FD中眼部发现的诊断价值。
UNASSIGNED: To report ocular manifestations in patients with Fabry disease (FD) from a tertiary eye care center in Türkiye.
UNASSIGNED: This prospective, cross-sectional study included 30 eyes of 15 patients with FD. The diagnosis of FD was made based on a combination of clinical findings, genetic analysis, and biochemical evaluation. All participants underwent a detailed ophthalmic examination with special focus on the typical ocular features of FD (cornea verticillata, conjunctival aneurysms, cataract, retinal vessel tortuosity).
UNASSIGNED: The mean age was 45±17 years (range: 22-75 years), with a female/male ratio of 2:3. All patients had tortuous conjunctival vessels and 12 patients (80%) had conjunctival aneurysms. Cornea verticillata was present in 10 patients (66.6%), lens opacification in 4 patients (26.6%), and retinal vascular tortuosity in 8 patients (53.3%). All patients had at least two different ocular findings; most (3 heterozygotes/7 hemizygotes) had a combination of corneal verticillata and conjunctival vessel abnormality. The conjunctiva, cornea, and retina were affected together in 5 hemizygous patients (33.3%). One hemizygous patient had all FDrelated ocular manifestations in both eyes.
UNASSIGNED: To our knowledge, this study is the first to describe the ocular manifestations of FD in the Turkish population. Although cornea verticillata is considered a hallmark of FD, it was absent in approximately one-third of patients. Moreover, cataract, another well-known feature of FD, was present in only 26.6% of the patients. Conjunctival vascular abnormality alone seems to be quite rare in FD, although it often accompanies other ocular manifestations. Therefore, recognition of other mild findings and special consideration of their associations may increase the diagnostic value of ocular findings in FD.