Wills Eye Hospital, Mid Atlantic Retina, Thomas Jefferson University, Philadelphia, PA, USA.
Retina and Vitreous of Texas, Methodist Hospital Blanton Eye Institute, Baylor College of Medicine Cullen Eye Institute, Houston, TX, USA.
Surv Ophthalmol. 2023 May-Jun;68(3):347-360. doi: 10.1016/j.survophthal.2023.01.008. Epub 2023 Jan 29.
X-linked retinoschisis (XLRS) is an X-linked inherited retinal dystrophy characterized by mild-to-severe visual impairment, splitting of the retinal layers, and a reduction in the dark-adapted b-wave amplitude on the electroretinogram. Typical clinical features include macular and peripheral schisis. Relatively common features reported include rhegmatogenous or tractional retinal detachment, vitreous hemorrhage, retinal pigment epithelial changes, vitreous veils, and various retinal vascular abnormalities with or without exudation. Macular hole and macular folds are atypical presentations of XLRS, along with several other rare findings. Here, we report 4 cases of XLRS with atypical clinical presentations and review the literature on XLRS, with a focus on the variable clinical features of this condition.
X 连锁性视网膜炎劈裂症（XLRS）是一种 X 连锁遗传性视网膜营养不良，其特征为轻度至重度视力障碍、视网膜层分裂以及视网膜电图暗适应 b 波振幅降低。典型的临床特征包括黄斑和周边劈裂。据报道，较为常见的特征包括孔源性或牵拉性视网膜脱离、玻璃体积血、视网膜色素上皮改变、玻璃体膜和各种伴有或不伴有渗出的视网膜血管异常。黄斑裂孔和黄斑褶皱是 XLRS 的非典型表现，还有其他几种罕见表现。在此，我们报告了 4 例具有非典型临床表现的 XLRS 病例，并对 XLRS 的文献进行了回顾，重点关注该疾病的可变临床特征。
