Świerczyńska Marta, Tronina Agnieszka, Filipek Erita
Department of Ophthalmology, Faculty of Medical Sciences in Katowice, Medical University of Silesia, 40-514 Katowice, Poland.
Department of Ophthalmology, Kornel Gibiński University Clinical Center, Medical University of Silesia, 40-514 Katowice, Poland.
J Pers Med. 2023 Nov 15;13(11):1609. doi: 10.3390/jpm13111609.
Aicardi-Goutières syndrome (AGS) is a rare genetic disorder characterized by microcephaly, white matter lesions, numerous intracranial calcifications, chilblain skin lesions and high levels of interferon-α (IFN-α) in the cerebrospinal fluid (CSF). However, ocular involvement is reported significantly less frequently.
We present a case of a neonate with hypotrophy, microcephaly, frostbite-like skin lesions, thrombocytopenia, elevated liver enzymes and hepatosplenomegaly. Magnetic resonance imaging (MRI) of the brain showed multiple foci of calcification, white matter changes, cerebral atrophy, and atrophic dilatation of the ventricular system. The inflammatory parameters were not elevated, and the infectious etiology was excluded. Instead, elevated levels of IFN-α in the serum were detected. Based on the related clinical symptoms, imaging and test findings, the diagnosis of AGS was suspected. Genetic testing revealed two pathogenic mutations, c.490C>T and c.222del (novel mutation), in the three prime repair exonuclease 1 () gene, confirming AGS type 1 (AGS1). An ophthalmologic examination of the child at 10 months of age revealed an impaired pupillary response to light, a corneal haze with Haab lines in the right eye (RE), pale optic nerve discs and neuropathy in both eyes (OU). The intraocular pressure (IOP) was 51 mmHg in the RE and 49 in the left eye (LE). The flash visual evoked potential (FVEP) showed prolonged P2 latencies of up to 125% in the LE and reduced amplitudes of up to approximately 10% OU. This girl was diagnosed with congenital glaucoma, and it was managed with a trabeculectomy with a basal iridectomy of OU, resulting in a reduction and stabilization in the IOP to 12 mmHg in the RE and 10 mmHg in the LE without any hypotensive eyedrops.
We present the clinical characteristics, electrophysiological and imaging findings, as well as the genetic test results of a patient with AGS1. Our case contributes to the extended ophthalmic involvement of the pathogenic c.490C>T and c.222del mutations in
艾卡迪-古铁雷斯综合征（AGS）是一种罕见的遗传性疾病，其特征为小头畸形、白质病变、众多颅内钙化、冻疮样皮肤病变以及脑脊液（CSF）中干扰素-α（IFN-α）水平升高。然而，眼部受累的报道频率明显较低。
我们报告一例新生儿，有发育迟缓、小头畸形、冻疮样皮肤病变、血小板减少、肝酶升高及肝脾肿大。脑部磁共振成像（MRI）显示多个钙化灶、白质改变、脑萎缩以及脑室系统萎缩性扩张。炎症指标未升高，且排除了感染性病因。相反，检测到血清中IFN-α水平升高。基于相关临床症状、影像学和检查结果，怀疑为AGS。基因检测显示在三磷酸修复外切核酸酶1（）基因中存在两个致病突变，即c.490C>T和c.222del（新突变），确诊为1型AGS（AGS1）。该患儿10个月大时的眼科检查发现瞳孔对光反应受损，右眼（RE）角膜有哈布线混浊、视神经盘苍白以及双眼（OU）神经病变。右眼眼压（IOP）为51 mmHg，左眼（LE）为49 mmHg。闪光视觉诱发电位（FVEP）显示左眼P2潜伏期延长高达125%，双眼振幅降低高达约10%。该女孩被诊断为先天性青光眼，并接受了双眼小梁切除术联合基底虹膜切除术，术后右眼眼压降至12 mmHg，左眼眼压降至10 mmHg且稳定，无需使用任何降眼压眼药水。
我们展示了一例AGS1患者的临床特征、电生理和影像学表现以及基因检测结果。我们的病例有助于扩展对致病性c.490C>T和c.222del突变的眼科受累情况的认识
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