多发性视网膜星形细胞瘤在先天性黑矇性莱伯氏遗传性视神经病变患者的同胞中发病：病例系列及文献复习。
Multiple retinal astrocytic hamartomas in siblings with lebers congenital amaurosis: a case series and review of literature.
机构信息
Department of Vitreo-Retina Services, Dr. Shroff Charity Eye Hospital, 5027, Kedarnath Lane, Daryaganj, Delhi, New Delhi, 110002, India.
出版信息
BMC Ophthalmol. 2020 Sep 23;20(1):377. doi: 10.1186/s12886-020-01646-z.
BACKGROUND
Leber's congenital amaurosis (LCA) is a known inherited retinal disease (IRD) associated with severe visual loss, nystagmus, amaurotic pupils, oculo-digital sign and markedly reduced or absent electroretinograms (ERG). Retinal astrocytic hamartomas (RAH) is a benign vascularized glial tumor of the retina. There is no known association of these two entities, more so in siblings.
CASE PRESENTATION
A pair of siblings diagnosed as LCA who presented with RAH with no extraocular symptoms or signs of phakomatosis were imaged. Multimodal imaging was performed and are elaborately described in this article.
CONCLUSION
LCA in siblings with multiple RAHs is an extremely rare association. Recent advances in retinal imaging tools have aided in diagnosing even subtle and early RAH with high sensitivity using Infrared imaging (IRI) and Optical coherence tomography (OCT).
背景
Leber 先天性黑矇（LCA）是一种已知的遗传性视网膜疾病（IRD），其特征是严重的视力丧失、眼球震颤、光感消失的瞳孔、眼-指征和明显降低或消失的视网膜电图（ERG）。视网膜星形细胞瘤（RAH）是一种良性血管性视网膜胶质肿瘤。这两种疾病没有已知的关联，更不用说在兄弟姐妹中了。
病例介绍
一对被诊断为 LCA 的兄弟姐妹，他们出现了 RAH，但没有眼球外症状或神经皮肤综合征的迹象，对其进行了成像检查。本文详细描述了多模态成像的过程和结果。
结论
LCA 合并多发 RAH 在兄弟姐妹中极为罕见。最近视网膜成像工具的进步，使用近红外成像（IRI）和光相干断层扫描（OCT），提高了对细微和早期 RAH 的诊断敏感性。
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