Yokoi Tadashi, Koide Ryouhei, Matsuoka Kentaro, Nakagawa Atsuko, Azuma Noriyuki
Department of Ophthalmology, National Center for Child Health and Development, Syowa University East Hospital, Tokyo, Japan.
Graefes Arch Clin Exp Ophthalmol. 2009 May;247(5):715-8. doi: 10.1007/s00417-008-1016-z. Epub 2008 Dec 17.
Stickler syndrome causes ocular abnormalities, including retinal detachment and vitreoretinal degeneration, and systemic anomalies such as arthritis and deafness. Although retinal detachment is characteristic of this syndrome, the pathogenesis is unknown.
A 10-year-old boy reported decreased vision and presented 5 days after visual loss.
Ophthalmoscopy showed a retinal detachment with a giant tear in the right eye, and a nonpigmented epithelial detachment with pars plicata breaks in the left eye. Bilateral findings included an empty vitreous and a vitreous membrane at the equator. The systemic abnormalities included short stature and joint hypermobility. The diagnosis was type 1 Stickler syndrome, and the eyes were treated surgically. Immunohistochemistry showed that the vitreous membrane resected intraoperatively was comprised primarily of Müller cells. Electron microscopy showed dense collagen fibers around the cells in the membrane that were identical to the vitreous collagen inserted into the basement membrane of the cells, which was similar to the ultrastructure of the vitreous base.
Müller cells might be primary components of the vitreous membrane in type 1 Stickler syndrome. The vitreoretinal interface, which resembled the ectopic vitreous base, in the vitreous membrane may be related to the pathogenesis of the retinal detachment.
斯蒂克勒综合征可导致眼部异常，包括视网膜脱离和玻璃体视网膜变性，以及全身性异常，如关节炎和耳聋。虽然视网膜脱离是该综合征的特征，但发病机制尚不清楚。
一名10岁男孩报告视力下降，视力丧失5天后就诊。
眼底检查显示右眼视网膜脱离伴巨大裂孔，左眼无色素上皮脱离伴睫状突断裂。双侧检查结果包括玻璃体空虚和赤道部玻璃体膜。全身异常包括身材矮小和关节活动过度。诊断为1型斯蒂克勒综合征，对眼睛进行了手术治疗。免疫组织化学显示术中切除的玻璃体膜主要由 Müller 细胞组成。电子显微镜显示膜内细胞周围有致密的胶原纤维，与插入细胞基底膜的玻璃体胶原相同，类似于玻璃体基底部的超微结构。
Müller 细胞可能是1型斯蒂克勒综合征玻璃体膜的主要成分。玻璃体膜中类似于异位玻璃体基底部的玻璃体视网膜界面可能与视网膜脱离的发病机制有关。
