Doğuizi Sibel, Şekeroğlu Mehmet Ali, Çolak Salih, Anayol Mustafa Alpaslan, Yılmazbaş Pelin
Ulucanlar Eye Training and Research Hospital, Ophthalmology Clinic, Ankara, Turkey.
Turk J Ophthalmol. 2017 Oct;47(5):302-305. doi: 10.4274/tjo.09068. Epub 2017 Oct 27.
X-linked juvenile retinoschisis (XLRS) is an X-linked hereditary retinal dystrophy characterized by splitting of the neurosensory retina. On fundus examination, the macula often has a spoke wheel appearance with foveal cystic lesions, and separation of the retinal layers is typical on spectral-domain optical coherence tomography (SD-OCT). Patients with XLRS can exhibit different clinical courses, stages, and SD-OCT findings, even among members of the same family. SD-OCT is an important imaging method that allows us to achieve more detailed information about XLRS. In this study, we report three patients in the same family who have different clinical features and SD-OCT findings.
X连锁青少年视网膜劈裂症(XLRS)是一种X连锁遗传性视网膜营养不良,其特征是神经感觉视网膜劈裂。眼底检查时,黄斑通常呈辐轮状外观,伴有黄斑中心凹囊性病变,在光谱域光学相干断层扫描(SD-OCT)上视网膜层分离是典型表现。即使在同一家族成员中,XLRS患者也可能表现出不同的临床病程、阶段和SD-OCT表现。SD-OCT是一种重要的成像方法,使我们能够获得关于XLRS更详细的信息。在本研究中,我们报告了同一家族中的三名患者,他们具有不同的临床特征和SD-OCT表现。