Shiley Eye Institute, University of California San Diego, La Jolla, CA, 92093, USA.
Department of Ophthalmology and Vision Sciences, University of Toronto, Toronto, Canada.
Graefes Arch Clin Exp Ophthalmol. 2023 Sep;261(9):2507-2516. doi: 10.1007/s00417-023-06041-0. Epub 2023 Apr 12.
Late-onset retinal degeneration (L-ORD) is a rare retinal dystrophy with anterior segment (AS) abnormalities, including long anterior zonules (LAZ) and iris atrophy. This investigation evaluates AS changes in a L-ORD cohort.
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.
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).
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.
迟发性视网膜变性（L-ORD）是一种罕见的视网膜变性，伴有前段（AS）异常，包括长前悬韧带（LAZ）和虹膜萎缩。本研究评估了 L-ORD 队列的 AS 变化。
前瞻性、纵向研究包括 2011 年至 2022 年间眼部检查和标准裂隙灯照片的 L-ORD 个体（Ser163Arg）。合并 AS 图像，并评估 LAZ 数量和无悬韧带区（ZFZ）半径。进一步报告了虹膜萎缩模式等临床发现。
纳入 6 名患者（4 名男性，中位年龄 60.5 岁）的 12 只眼，显示中位数为 160（11-372）条 LAZ，主要位于上方（39%）和下方（24%）。眼间具有高度的相关性（rs=0.94，p<0.01），眼间 LAZ 计数无差异（p=0.82），LAZ 与年龄呈负相关（r=-0.82；p<0.05）。ZFZ 中位数为 2.1mm（1.3-5.4），眼间无差异（p=0.31）。12 只眼中有 11 只出现虹膜透照缺陷，有 4 种主要模式：瞳孔皱襞稀疏（10/12）、斑片状萎缩（6/12）、缺口缺陷（6/12）和放射状条纹（2/12）。在 5.9 年的短期随访中，4 只眼 LAZ 计数中位数减少至 139.5（67-169）（p=0.50），ZFZ 测量值中位数增加至 2.2（1.7-2.6）（p=0.17）。
本研究证实 L-ORD 中 LAZ 计数和 ZFZ 呈对称分布，ZFZ 测量值小于以往队列。纵向研究提示 LAZ 计数减少和 ZFZ 随年龄增加，但由于随访仅限于 2 例，因此需要进一步评估。
