Ophthalmic Surg Lasers Imaging Retina. 2022 Jun;53(6):326-331. doi: 10.3928/23258160-20220601-01. Epub 2022 Jun 1.
The most common clinical features of X-linked retinoschisis (XLRS) include macular schisis in a spoke wheel pattern and peripheral schisis, though other findings such as vitreous veils, vascular attenuation, and subretinal fibrosis have been described. This is the first report to describe retinal folds as a characteristic feature in patients with XLRS.
This was a case series of patients presenting to the retina service at Bascom Palmer Eye Institute with genetically confirmed XLRS. Patients included in this report underwent examination under anesthesia with multimodality imaging.
Three patients with XLRS were found to have retinal folds, including a newly characterized "retinal scroll" seen on examination and multimodality imaging.
The presence of a retinal fold should yield a differential diagnosis that includes XLRS in the correct clinical context. Panel-based genetic testing and multimodal imaging are useful in guiding clinical management. .
X 连锁性视网膜劈裂症（XLRS）最常见的临床特征包括呈轮辐状的黄斑劈裂和周边劈裂，但也有其他发现，如玻璃体膜、血管衰减和视网膜下纤维化。这是首次报道视网膜皱襞是 XLRS 患者的一个特征性表现。
这是一组在巴斯科姆帕尔默眼科研究所视网膜科就诊的经基因证实的 XLRS 患者的病例系列研究。本报告中纳入的患者均在全身麻醉下接受了多模态成像检查。
发现 3 名 XLRS 患者存在视网膜皱襞，包括检查和多模态成像上可见的新特征性“视网膜卷曲”。
在正确的临床背景下，出现视网膜皱襞应提示包括 XLRS 在内的鉴别诊断。基于面板的基因检测和多模态成像有助于指导临床管理。
