Bascom Palmer Eye Institute, Department of Ophthalmology, University of Miami Miller School of Medicine, Miami Veterans Affairs Medical Center, Miami, Florida 33136, USA.
Ophthalmology. 2013 Jan;120(1):169-74. doi: 10.1016/j.ophtha.2012.07.051. Epub 2012 Sep 23.
To evaluate macular and extramacular retinal anatomy in patients and carriers of X-linked retinoschisis (XLRS) using a wide-field spectral-domain optical coherence tomography (SD-OCT) imaging technique.
Case series.
Six XLRS-affected male subjects and 3 XLRS female carriers.
The subjects prospectively underwent XLRS DNA genotyping and comprehensive ophthalmic examination, including visual acuity, 30-2 Humphrey visual field, fundus photography, and wide-field SD-OCT, a montage technique to generate SD-OCT images spanning approximately 50 degrees horizontally and 35 degrees vertically of the posterior pole.
Distribution and location of schisis cavities.
Among male subjects affected by XLRS, asymmetric bilateral schisis was seen in all eyes imaged with montage SD-OCT (11 eyes). Wide-field OCT images demonstrated schisis cavities only in the central macula in 6 eyes (55%), throughout the macula extending to the outside of the temporal arcades in 3 eyes (27%), and throughout the macula extending nasal to the optic nerve in 2 eyes (18%). Cystoid spaces accounting for macular splitting were present in the inner nuclear layer (INL) in all 11 eyes and in the outer nuclear layer (ONL) in 4 eyes. A few small cysts were seen parafoveally in the ganglion cell layer (GCL) or nerve fiber layer (NFL) in 4 eyes. Subclinical extramacular schisis spaces were seen (n=5 eyes) within the INL in 1 eye, the ONL in 1 eye, the INL/GCL/NFL in 1 eye, the ONL/GCL/NFL in 1 eye, and the INL/ONL/GCL/NFL in 1 eye. Schisis was rarely seen nasal to the optic nerve (2 eyes). Central/paracentral visual field defects were seen in 9 eyes. Female carriers did not show schisis on examination or OCT.
Wide-field SD-OCT is a useful tool for evaluating complex retinal anatomy. In patients with XLRS, the foveomacular schisis was seen most frequently in the INL. Subclinical extramacular schisis was seen in 45% of eyes and was equally prevalent in the INL, ONL, and GCL/FNL. The GCL/FNL cystoid spaces were small and seen near the fovea and the arcades only. Carriers were schisis-free.
FINANCIAL DISCLOSURE(S): The author(s) have no proprietary or commercial interest in any materials discussed in this article.
使用宽视野谱域光学相干断层扫描（SD-OCT）成像技术评估 X 连锁性视网膜劈裂症（XLRS）患者和携带者的黄斑和周边视网膜解剖结构。
病例系列。
6 名 XLRS 受累男性受试者和 3 名 XLRS 女性携带者。
受试者前瞻性进行 XLRS DNA 基因分型和全面眼科检查，包括视力、30-2 Humphrey 视野、眼底照相和宽视野 SD-OCT，后者采用全景拼接技术生成约 50 度水平和 35 度垂直视后极的 SD-OCT 图像。
劈裂腔的分布和位置。
在接受 XLRS 影响的男性受试者中，所有接受全景 SD-OCT 成像的眼睛（11 只眼）均表现出双侧不对称性劈裂（11 只眼）。宽视野 OCT 图像显示，6 只眼（55%）的中央黄斑仅有劈裂腔，3 只眼（27%）的黄斑延伸至颞弓外，2 只眼（18%）的黄斑延伸至视神经鼻侧。所有 11 只眼的内核层（INL）和 4 只眼的外核层（ONL）均存在占黄斑劈裂的囊样间隙。4 只眼的神经节细胞层（GCL）或神经纤维层（NFL）中可见少量小囊。5 只眼的 INL 中存在亚临床周边劈裂腔，1 只眼的 ONL 中存在亚临床周边劈裂腔，1 只眼的 INL/GCL/NFL 中存在亚临床周边劈裂腔，1 只眼的 ONL/GCL/NFL 中存在亚临床周边劈裂腔，1 只眼的 INL/ONL/GCL/NFL 中存在亚临床周边劈裂腔。视神经鼻侧的劈裂很少见（2 只眼）。9 只眼出现中心/旁中心视野缺损。女性携带者在检查或 OCT 中均未发现劈裂。
宽视野 SD-OCT 是评估复杂视网膜解剖结构的有用工具。在 XLRS 患者中，最常见的黄斑劈裂发生在 INL。45%的眼可见亚临床周边劈裂，INL、ONL 和 GCL/FNL 同样常见。GCL/FNL 的囊样间隙较小，仅在靠近黄斑和弓状纤维处可见。携带者无劈裂。
