Absent Foveal Avascular Zone in Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay.
Absent Foveal Avascular Zone in Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay.
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DOI：
10.1097/wno.0000000000001050
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发表时间：
2021-06-01
期刊：
影响因子：
--
通讯作者：
Gaier ED
中科院分区：
文献类型：
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作者：
Douglas VP;Douglas KAA;Miller JB;Gaier ED
Saguenay(ARSACS)是一种遗传性神经退行性疾病，以早发性共济失调、痉挛、肌萎缩和构音障碍为特征。ARSACS的眼部表现包括眼球震颤、动眼神经病变、黄斑微囊和视网膜内层增厚(1-3)。虽然ARSACS的发病机制被归因于线粒体功能障碍，但其标志性眼底改变的病理生理学仍不清楚(1-3)。光学相干断层血管成像(OCT-A)是最近发展起来的一种技术，可以对视网膜和脉络膜微血管进行非侵入性成像。OCT-A在黄斑和神经眼科疾病中的应用为许多后极部疾病提供了新的见解。在这篇文章中，我们使用OCT-A来获得对ARSACS的标志性眼底镜检查结果的新见解。一名19岁的法裔加拿大男子，有ARSACS病史和SACS基因的致病复合杂合突变[c.4744G]。A(p.Asp1582Asn)；c.7205_7206delTT(p.Leu2402Argfs*6)]由他的神经科医生推荐进行视功能评估。病人否认视力有任何变化或困难。他有长期的痉挛和周围神经病变的病史，与先前肌电图示的具有混合轴突和脱髓鞘特征的全身性感觉运动性多发性神经病相一致。脑部核磁共振显示脑桥内有线状条纹，小脑蠕虫萎缩改变，以及小脑后蛛网膜囊肿。
Saguenay (ARSACS) is an inherited neurodegenerative disorder characterized by early onset ataxia, spasticity, amyotrophy, and dysarthria. Ophthalmic manifestations of ARSACS include nystagmus, oculomotor neuropathies, macular microcysts, and increased thickness of the inner retinal layers (1–3). Although the pathogenesis of ARSACS has been attributed to mitochondrial dysfunction, the pathophysiology of the hallmark funduscopic changes remains unclear (1–3). Optical coherence tomographic angiography (OCT-A) is a recently developed technology that allows for noninvasive imaging of the retinal and choroidal microvasculature. Application of OCT-A to macular and neuroophthalmic disease has uncovered new insights in many diseases of the posterior pole. In this article, we used OCT-A to gain new insights into the hallmark funduscopic findings in ARSACS.A 19-year-old French Canadian man with a history of ARSACS and pathogenic compound heterozygous mutations in the SACS gene [c. 4744G. A (p. Asp1582Asn); c. 7205_7206delTT (p. Leu2402Argfs* 6)] was referred by his neurologist for evaluation of visual function. The patient denied any changes or difficulty with his vision. He had a long-standing history of spasticity and peripheral neuropathy consistent with a generalized sensorimotor polyneuropathy with mixed axonal and demyelinating features on previous electromyography. MRI of the brain had demonstrated linear striations within the pons, atrophic changes of the cerebellar vermis, and a retrocerebellar arachnoid cyst.