METHODS: Prospective, longitudinal study including L-ORD individuals (Ser163Arg) with ocular exam and standard slit-lamp photographs between 2011 and 2022. AS images were merged and assessed for LAZ number and zonule-free zone (ZFZ) radius. Further clinical findings such as iris atrophy patterns were reported descriptively.
RESULTS: Twelve eyes of 6 patients (4 males, median age = 60.5 years) were included, showing a median of 160 (11-372) LAZs, mainly localized superiorly (39%) and inferiorly (24%). There was a high inter-ocular correlation (rs = 0.94, p < 0.01), no difference in LAZ count between eyes (p = 0.82), and an inverse relationship between LAZ and age (r = - 0.82; p < 0.05). The ZFZ had median 2.1 mm (1.3-5.4), with no inter-ocular difference (p = 0.31). Iris transillumination defects occurred in 11/12 eyes, with 4 major patterns identified: pupillary ruff rarefaction (10/12), patchy atrophy (6/12), notched defects (6/12), and radial streaks (2/12). In a short-term follow-up of 5.9 years, 4 eyes showed a reduction in LAZ count to median 139.5 (67-169) (p = 0.50) and a concomitant increase in ZFZ measurement to median 2.2 (1.7-2.6) (p = 0.17).
CONCLUSIONS: This study confirms symmetric LAZs count and ZFZ in L-ORD, with ZFZ measurements smaller than in previous cohorts. A reduction in LAZs count and an increase in ZFZ with age were suggested longitudinally, yet findings need further evaluation as follow-up was limited to two cases.
方法:前瞻性,纵向研究,包括2011年至2022年间L-ORD个体(Ser163Arg)的眼部检查和标准裂隙灯照片。合并AS图像并评估LAZ数量和无带区(ZFZ)半径。描述性报道了进一步的临床发现,例如虹膜萎缩模式。
结果:6例患者的12只眼(4例男性,中位年龄=60.5岁)包括在内,显示中位数为160(11-372)LAZ,主要位于上方(39%)和下方(24%)。存在高度的眼间相关性(rs=0.94,p<0.01),眼睛之间的LAZ计数没有差异(p=0.82),LAZ与年龄呈负相关(r=-0.82;p<0.05)。ZFZ的中位数为2.1毫米(1.3-5.4),没有眼间差异(p=0.31)。虹膜透照缺陷发生在11/12眼,确定了4种主要模式:瞳孔皱褶稀疏(10/12),斑片状萎缩(6/12),缺口缺陷(6/12),和径向条纹(2/12)。在5.9年的短期随访中,4只眼显示LAZ计数减少至中位数139.5(67-169)(p=0.50),同时ZFZ测量值增加至中位数2.2(1.7-2.6)(p=0.17)。
结论:这项研究证实了L-ORD中的对称LAZs计数和ZFZ,ZFZ测量值小于以前的队列。纵向建议随着年龄的增长,LAZs数量减少和ZFZ增加,但由于随访仅限于2例,因此需要进一步评估结果.