目的:评价镶嵌型RAS病患者眼底异常钙化病变的影像学和临床特点。
方法:单中心回顾性观察研究。
方法:7例马赛克RASopathy患者10只眼出现眼底钙化病变。
方法:用眼底照相评估病灶,口腔荧光素眼底血管造影,B超,磁共振成像(MRI),和计算机断层扫描(CT)扫描。
方法:评价眼底钙化性病变的影像学特征。
结果:我们发现了7例镶嵌RASopathies患者,5名男性和2名女性(3名患有线性皮脂腺痣综合征,3患有眼外胚层综合征,1例伴有头颅皮肤脂肪瘤病),5例分子确认,所有5个都有KRAS致病性变异。在10只眼(3例患者双侧)中发现了钙化的眼底病变,看起来稍微升高,视神经周围或附近的乳黄色病变,经鼻延伸;除两个病变外,所有病变都涉及脉络膜和巩膜,其中两个仅在检查时涉及巩膜。一例出现脉络膜新生血管膜(CNV),需要玻璃体内注射贝伐单抗。所有7例患者均进行了B超检查,尽管增益降低,但病变仍表现为高回声区域,后部有声影。五个病人做了核磁共振,出现眼底病变的地方,巩膜脉络膜层有局灶性缺损。四名患者进行了CT扫描,所有四名患者均显示钙化,影响后内侧巩膜脉络膜和邻近的内侧直肌。其中两个患者的眼球运动正常,一个人在成像和术中观察到单侧固定内收的眼睛和残留的纤维性内侧直肌,第四个有明显的外斜视,右注视缺陷影响双眼。
结论:我们建议在该队列中看到的病变是钙化的巩膜脉络膜脉络膜脉络膜瘤(CaSCCs),当在眼底看到乳黄色病变时,应该怀疑是马赛克放射病。如果确定,在随访期间应考虑脉络膜新生血管的可能性.在所有进行CT扫描的情况下,发现了累及内侧直肌的巩膜肌肉钙化的新迹象。
OBJECTIVE: To evaluate the imaging and clinical features of unusual calcified lesions seen in the fundus of patients with mosaic RASopathy.
METHODS: Single-center retrospective observational study.
METHODS: Ten eyes with calcified fundus lesions in 7 patients with mosaic RASopathy.
METHODS: The lesions were evaluated with fundus photography, oral fundus fluorescein angiography, B-scan ultrasonography, magnetic resonance imaging (MRI), and computed tomography (CT) scan where available.
METHODS: The imaging characteristics of calcified fundus lesions were assessed.
RESULTS: We found 7 patients with mosaic RASopathies, 5 men and 2 women (3 with linear sebaceous nevus syndrome, 3 with oculoectodermal syndrome, and 1 with encephalocraniocutaneous lipomatosis) with molecular confirmation in 5 cases, all 5 having KRAS-pathogenic variants. Calcified fundus lesions were identified in 10 eyes (bilateral in 3 patients), appearing as slightly elevated, creamy-yellow lesions around or adjacent to the optic nerve, extending supero-nasally; all but 2 of these lesions involved both the choroid and sclera, with 2 of them only involving the sclera at the time of examination. One case developed a choroidal neovascular membrane necessitating intravitreal bevacizumab injections. All 7 patients had B-scan ultrasonography, and the lesion appeared as a hyperechogenic area with an acoustic shadow posteriorly despite reduced gain. Five patients had MRI, and where fundus lesions were present, there was a focal defect in the sclero-choroidal layer. Four patients had a CT scan, and all 4 showed calcifications affecting both the posteromedial sclero-choroid and adjacent medial rectus muscle. Two of these patients had normal eye movements, 1 had a unilateral fixed adducted eye and a vestigial fibrous medial rectus muscle seen in imaging and intraoperatively, and the fourth had marked exotropia with a right gaze deficit affecting both eyes.
CONCLUSIONS: We propose that the lesions seen in this cohort are calcified sclero-choroidal choristomas and should be suspected in mosaic RASopathies when creamy-yellow lesions are seen in the fundus. If identified, the possibility of choroidal neovascularization should be considered during follow-up. In all cases where a CT scan was performed, a novel sign of sclero-muscular calcification involving the medial rectus muscle was seen.
BACKGROUND: The author(s) have no proprietary or commercial interest in any materials discussed in this article.