Recessive Mutation in a Nuclear-Encoded Mitochondrial tRNA Synthetase Associated With Infantile Cataract, Congenital Neurotrophic Keratitis, and Orbital Myopathy
Recessive Mutation in a Nuclear-Encoded Mitochondrial tRNA Synthetase Associated With Infantile Cataract, Congenital Neurotrophic Keratitis, and Orbital Myopathy
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DOI：
10.1097/ico.0000000000000847
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发表时间：
2016-06-01
期刊：
影响因子：
2.8
通讯作者：
Harissi-Dagher, Mona
中科院分区：
文献类型：
--
作者：
Jabbour, Samir;Harissi-Dagher, Mona
目的：报告一个罕见的核编码线粒体氨酰-tRNA合成酶IARS 2突变病例的眼部表现。方法：一名33岁的女性，因婴儿白内障、生长激素缺乏症、感觉神经病、感觉神经性听力损失和骨骼发育不良而被转诊到我们这里，原因是多次角膜移植失败和严重的眼干。结果：该患者被发现患有神经营养性角膜炎和角膜混浊。结论：患有这种非常罕见的突变的患者出现了无数的眼部表现，包括婴儿白内障、神经营养性角膜炎、角膜混浊和眼眶肌病。
Purpose:To report the ocular findings of a rare case of mutation in the nuclear-encoded mitochondrial aminoacyl-tRNA synthetase IARS2.Methods:A 33-year-old woman known for infantile cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia was referred to us for multiple failed corneal grafts and severe eye dryness.Results:The patient was found to have neurotrophic keratitis and corneal opacification.Conclusions:Patients with this very rare mutation present with a myriad of ocular findings, including infantile cataract, neurotrophic keratitis, corneal opacification, and orbital myopathy.