Abstract：
OBJECTIVE: 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.
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.
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.
摘要：
目的：晚发性视网膜变性（L-ORD）是一种罕见的视网膜营养不良，伴有眼前节（AS）异常，包括长前小带（LAZ）和虹膜萎缩。本研究评估了一个L-ORD队列中的AS变化。
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.
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.
