Purpose

To analyze the retinal structure in patients with X-linked retinoschisis (XLRS) using spectral-domain OCT and to correlate the morphologic findings with visual acuity, electroretinographic results, and patient age.

Design

Retrospective, observational study.

Participants

Data from 52 consecutive male patients with molecularly confirmed XLRS were collected retrospectively.

Methods

Complete clinical evaluation included best-corrected visual acuity, full-field electroretinography, fundus photography, spectral-domain OCT, and fundus autofluorescence. Spectral-domain OCT images were analyzed to determine full thickness of the retina and tomographic structural changes.

Main Outcome Measures

Relationships between age, OCT, and visual acuity were assessed.

Results

One hundred four eyes of 52 patients were included. The mean age at inclusion was 24±15 years (range, 3–57 years). The best-corrected visual acuity ranged from no light perception to 0.1 logarithm of the minimum angle of resolution (mean, 0.6±0.38 logarithm of the minimum angle of resolution). Macular schisis was found in 88% of eyes and macular atrophy was found in 11% of eyes, whereas peripheral schisis was present in 30% of eyes. A spoke-wheel pattern of high and low intensity was the most frequently observed fundus autofluorescence abnormality (51/94 eyes [54%]). The b-to-a amplitude ratio on bright-flash dark-adapted electroretinography was reduced significantly in 45 of 64 eyes (70%). Spectral-domain OCT was available for 97 eyes and showed foveoschisis in 76 of 97 eyes (78%), parafoveal schisis in 10 of 97 eyes (10%), and foveal atrophy in 11 of 97 eyes (11%). Mean central macular thickness (CMT) was of 373.6±140 μm. Cystoid changes were localized mainly in the inner nuclear layer (85/97 eyes [88%]). Qualitative defects in photoreceptor structures were found in most eyes (79/97 eyes [81%]), and the most frequent abnormality was an interruption of the photoreceptor cell outer segment tips (79/79 eyes [100%]). Older age correlated well with lower CMT (correlation coefficient [CC], –0.44; P < 0.001) and with lower photoreceptor outer segment (PROS) length (CC, –0.42; P < 0.001). Lower visual acuity correlated strongly with lower PROS length (CC, –0.53; P < 0.001).

Conclusions

This study underlined the wide variety of clinical features of XLRS. It highlighted the correlation between visual acuity, patient age, and OCT features, emphasizing the relevance of the latter as potential outcome measure in clinical trials.

中文翻译：

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法国队列的X链接视网膜裂症患者的表型特征。

目的

使用光谱域OCT分析X连锁视网膜裂隙症（XLRS）患者的视网膜结构，并将形态学发现与视敏度，视网膜电图检查结果和患者年龄相关联。

设计

回顾性观察研究。

参加者

回顾性收集了52例经分子确诊的XLRS男性患者的数据。

方法

完整的临床评估包括最佳矫正视力，全视野视网膜电图，眼底照相，光谱域OCT和眼底自发荧光。分析了光谱域的OCT图像，以确定视网膜的完整厚度和断层扫描的结构变化。

主要观察指标

评估年龄，OCT和视敏度之间的关系。

结果

包括52例患者的一百零四只眼。纳入的平均年龄为24±15岁（范围为3–57岁）。最佳矫正的视敏度范围从无光感知到最小分辨角的0.1对数（平均值为最小分辨角的0.6±0.38对数）。在88％的眼睛中发现了黄斑裂片，在11％的眼睛中发现了黄斑萎缩，而在30％的眼睛中出现了周围性裂痕。高强度和低强度的辐条轮模式是最常观察到的眼底自发荧光异常（51/94眼[54％]）。在64眼中有45眼（70％）上，采用了暗暗适应性的快速闪光视网膜电图上的b到a振幅比显着降低。光谱域OCT可用于97眼，并在97眼中的76眼（78％）中显示了中心凹，在97眼中的10眼（10％）中显示了凹旁裂口，97眼中有11眼和中央凹萎缩（11％）。平均黄斑中心厚度（CMT）为373.6±140μm。囊肿变化主要位于核内层（85/97眼[88％]）。在大多数眼睛（79/97眼[81％]）中发现了光感受器结构的定性缺陷，最常见的异常是感光细胞外段尖端的中断（79/79眼[100％]）。较高的年龄与较低的CMT相关性很好（相关系数[CC]，– 0.44；P <0.001）和较低的感光体外部区段（PROS）长度（CC，–0.42；P  <0.001）。较低的视敏度与较低的PROS长度密切相关（CC，–0.53；P <0.001）。

结论

这项研究强调了XLRS的多种临床特征。它强调了视敏度，患者年龄和OCT功能之间的相关性，强调了后者在临床试验中作为潜在结局指标的相关性。