■先天性X连锁视网膜劈裂(XLRS)在几乎所有患者中表现为黄斑视网膜劈裂/变性,在一半患者中表现为外周视网膜劈裂。尽管已经很好地研究了黄斑视网膜裂开的光学相干断层扫描(OCT)发现,那些外周性视网膜裂孔很少被报道。本研究旨在报道XLRS患者周边视网膜的超宽视野OCT发现。
■回顾性分析了10例(19只眼)经临床和/或遗传诊断为XLRS的日本患者的病历。基金会,视网膜电图,和OCT检查结果进行回顾和评估。还对一些RS1基因进行了遗传评估。
■黄斑的OCT揭示了内部核层(INL)和外部核层的裂隙和/或囊样变化。相比之下,周围视网膜的OCT显示八只眼(44%)的INL的裂隙和/或膀胱样变化,和/或在18只具有清晰OCT图像的眼睛中的10只(56%)在神经节细胞层(GCL)中分裂。在8只眼睛的外周OCT图像中未发现分裂或膀胱样改变(44%)。一个16岁的男孩出现视网膜裂开的GCL和下视网膜INL,尽管他没有检眼镜周围视网膜裂孔。对三名患者进行了基因检查,所有这些人都报告了RS1基因的错义突变.
■在XLRS中,周围大疱性视网膜裂开是由视网膜中的GCL分裂引起的。10例XLRS患者中有1例表现为下缘GCL的视网膜内视网膜劈裂,这在眼底镜检查(隐匿性视网膜劈裂)上不明显。尽管周围大疱性视网膜裂孔和隐匿性视网膜裂孔均显示GCL中的分裂/囊性改变,需要进一步的研究来确定隐匿性视网膜劈裂是否进展为大疱性视网膜劈裂。
UNASSIGNED: Congenital X-linked retinoschisis (XLRS) presents as macular retinoschisis/degeneration in almost all patients and as peripheral retinoschisis in half the patients. Although the optical coherence tomography (OCT) findings of macular retinoschisis have been well investigated, those of peripheral retinoschisis have rarely been reported. This study aimed to report the ultra-widefield OCT findings of the peripheral retina in patients with XLRS.
UNASSIGNED: Medical records of 10 Japanese patients (19 eyes) with clinically and/or genetically diagnosed XLRS were retrospectively reviewed. Funduscopic, electroretinographic, and OCT findings were reviewed and evaluated. Some were also genetically evaluated for the RS1 gene.
UNASSIGNED: OCT of the macula revealed schises and/or cystoid changes in the inner nuclear layer (INL) and outer nuclear layer. In contrast, OCT of the peripheral retina revealed schises and/or cystoid changes in the INL in eight eyes (44%), and/or splitting in the ganglion cell layer (GCL) in 10 (56%) of the 18 eyes with clear OCT images. No schisis or cystoid changes were found in the peripheral OCT images of eight eyes (44%). A 16-year-old boy presented with retinal splitting of the GCL and INL of the inferior retina, although he had no ophthalmoscopic peripheral retinoschisis. Genetic examinations were performed on three patients, all of whom had reported missense mutations in the RS1 gene.
UNASSIGNED: In XLRS, peripheral bullous retinoschisis results from GCL splitting in the retina. One of the 10 patients with XLRS showed intraretinal retinoschisis in the GCL in the inferior periphery, which was unremarkable on ophthalmoscopy (occult retinoschisis). Although both peripheral bullous retinoschisis and occult retinoschisis showed splitting/cystic changes in the GCL, further studies are needed to determine whether occult retinoschisis progresses to bullous retinoschisis.