Typical and atypical clinical presentations of X-Linked retinoschisis: A case series and literature review

被引:5
作者
Wakabayashi, Taku [1 ]
Chang, Emmanuel [2 ]
Nudleman, Eric [3 ]
El-Rayes, Ehab N. [4 ,5 ]
Yonekawa, Yoshihiro [1 ,6 ]
机构
[1] Thomas Jefferson Univ, Wills Eye Hosp, Mid Atlantic Retina, Philadelphia, PA USA
[2] Cullen Eye Inst, Methodist Hosp, Retina & Vitreous Texas, Baylor Coll Med,Blanton Eye Inst, Houston, TX USA
[3] Univ Calif San Diego, Shiley Eye Inst, Dept Ophthalmol, San Diego, CA USA
[4] Inst Ophthalmol, Dept Ophthalmol, Giza, Egypt
[5] Retina Eye Ctr, Cairo, Egypt
[6] Thomas Jefferson Univ, Wills Eye Hosp, Mid Atlantic Retina, Philadelphia, PA 19144 USA
关键词
Macular folds; Macular hole; Macular retinoschisis; Peripheral schisis; Rhegmatogenous retinal; detachment; Traction retinal detachment; Vacular abnormalities; Vitreous hemorrhage; X -linked retinoschisis; OPTICAL COHERENCE TOMOGRAPHY; HEREDITARY JUVENILE RETINOSCHISIS; CARBONIC-ANHYDRASE INHIBITOR; CONGENITAL VASCULAR VEILS; CYSTIC MACULAR LESIONS; FOVEAL SCHISIS; XLRS1; GENE; VITREORETINAL SURGERY; RETINAL-DETACHMENT; NATURAL-HISTORY;
D O I
10.1016/j.survophthal.2023.01.008
中图分类号
R77 [眼科学];
学科分类号
100212 ;
摘要
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 mac-ular 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. Macu-lar 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.(c) 2023 Elsevier Inc. All rights reserved.
引用
收藏
页码:347 / 360
页数:14
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