SPOAN 综合征：一种新的突变和新的眼部发现；病例报告。
SPOAN syndrome: a novel mutation and new ocular findings; a case report.
机构信息
Farabi eye hospital, Eye research center, Tehran University of Medical Science, Farabi Eye Hospital, Qazvin square, South Kargar Street, Tehran, Iran.
Department of Medical Genetics, Faculty of Medicine, Tehran University of Medical Sciences, Tehran, Iran.
出版信息
BMC Neurol. 2021 Jan 15;21(1):24. doi: 10.1186/s12883-021-02051-9.
BACKGROUND
To report a novel mutation and new clinical findings in a case with SPOAN syndrome (spastic paraplegia, optic atrophy, neuropathy).
CASE PRESENTATION
Clinical examination, genetic testing and electroretinography were used to study a 2-year-old child who was referred to our clinic with no visual attention and documented SPOAN syndrome. Fundoscopy revealed optic atrophy, diffuse retinal pigment mottling, severe vascular attenuation, and completely non-vascularized peripheral retina in both eyes. Full-field electroretinogram (ERG) revealed flat responses.
CONCLUSIONS
Severe retinopathy and flat full-field ERG responses can occur in SPOAN syndrome.
背景
报道一例 SPOAN 综合征（痉挛性截瘫、视神经萎缩、神经病）的新型突变和新的临床发现。
病例介绍
临床检查、基因检测和视网膜电图用于研究一名 2 岁儿童，该儿童因无视觉注意力而被转至我们的诊所，确诊为 SPOAN 综合征。眼底检查显示双眼视神经萎缩，弥漫性视网膜色素沉着，严重的血管衰减，以及完全无血管化的周边视网膜。全视野视网膜电图（ERG）显示平坦反应。
结论
SPOAN 综合征可出现严重的视网膜病变和平坦的全视野 ERG 反应。
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