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伴有对侧周边视网膜劈裂的星状非遗传性特发性黄斑中心凹视网膜劈裂

STELLATE NONHEREDITARY IDIOPATHIC FOVEOMACULAR RETINOSCHISIS ACCOMPANIED BY CONTRALATERAL PERIPHERAL RETINOSCHISIS.

作者信息

Ahmed Daniel, Stattin Martin, Glittenberg Carl, Krebs Ilse, Ansari-Shahrezaei Siamak

机构信息

Karl Landsteiner Institute for Retinal Research and Imaging, Vienna, Austria.

Department of Ophthalmology, Rudolf Foundation Hospital, Vienna, Austria.

出版信息

Retin Cases Brief Rep. 2019;13(2):135-140. doi: 10.1097/ICB.0000000000000544.

Abstract

PURPOSE

To present a patient with stellate nonhereditary idiopathic foveomacular retinoschisis on one eye and peripheral retinoschisis without foveal affection on the other eye.

METHODS

A case report with complete workup of family history and clinical examination, including multimodal imaging with optical coherence tomography and angiography, fluorescein angiography, and infrared fundus imaging. Genetic testing for gene mutation XRLS1 was performed.

RESULTS

A white woman with unremarkable medical history presented with stellate foveal splitting of the outer plexiform layer on the right eye and peripheral splitting of the outer plexiform layer on both eyes. All known allegeable trigger factors for the existence of a hereditary or acquired foveomacular retinoschisis were ruled out either by clinical presentation or genetic testing. This led to the diagnosis of stellate nonhereditary idiopathic foveomacular retinoschisis with central involvement only present on one eye.

CONCLUSION

Although peripheral schisis of the outer plexiform layer is often concomitant with central splitting in X-linked juvenile retinoschisis, this is the first known report of nonhereditary cleavage of the outer plexiform layer of the peripheral retina without central affection in a patient with documented stellate nonhereditary idiopathic foveomacular retinoschisis on the other eye. These findings suggest an accurate bilateral examination of the peripheral retina while confirming the diagnose of stellate nonhereditary idiopathic foveomacular retinoschisis.

摘要

目的

报告一例患者,一只眼睛患有星状非遗传性特发性黄斑中心凹视网膜劈裂,另一只眼睛患有周边视网膜劈裂且未累及黄斑。

方法

一份病例报告,包含完整的家族史检查和临床检查,包括光学相干断层扫描和血管造影、荧光素血管造影以及红外眼底成像等多模态成像检查。进行了XRLS1基因突变的基因检测。

结果

一名病史无异常的白人女性,右眼出现外丛状层的星状黄斑劈裂,双眼均出现外丛状层的周边劈裂。通过临床表现或基因检测排除了所有已知的遗传性或获得性黄斑中心凹视网膜劈裂的可能触发因素。由此诊断为仅一只眼睛出现中央受累的星状非遗传性特发性黄斑中心凹视网膜劈裂。

结论

虽然在X连锁青少年视网膜劈裂中外丛状层的周边劈裂常与中央劈裂同时存在,但这是首例已知报告,即一名患者一只眼睛患有记录在案的星状非遗传性特发性黄斑中心凹视网膜劈裂,而另一只眼睛的周边视网膜外丛状层出现非遗传性劈裂且未累及中央。这些发现提示在确诊星状非遗传性特发性黄斑中心凹视网膜劈裂时,应准确地对周边视网膜进行双侧检查。

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