Optic nerve atrophy in adrenoleukodystrophy detectable by optic coherence tomography
Optic nerve atrophy in adrenoleukodystrophy detectable by optic coherence tomography
复制标题
通过光学相干断层扫描可检测肾上腺脑白质营养不良中的视神经萎缩
DOI：
10.1016/j.jocn.2009.08.019
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发表时间：
2010
影响因子：
2
通讯作者：
H. Danesh
中科院分区：
文献类型：
--
作者：
Brian T. Grainger;Taras L Papchenko;H. Danesh
肾上腺脑白质营养不良（ALD）是一组代谢紊乱，其特征是在所有组织中积累极长链脂肪酸。两种最常见的ALD表型是成人发作的肾上腺脊髓神经病（AMN）和儿童脑ALD。在成人表型中，视觉系统受累被充分描述为临床检查时视觉功能受损和视盘苍白，伴有MRI上可见的视神经脱髓鞘。视网膜神经纤维层变薄和神经节细胞死亡已在新生儿形式的ALD中描述。我们的病人提供的证据，通过眼相干断层扫描的视网膜，这种退行性变化也是视觉功能障碍的AMN表型。
The adrenoleukodystrophies (ALDs) are a group of metabolic disorders characterised by the accumulation of very long-chain fatty acids in all tissues. The two most frequent ALD phenotypes are adult-onset adrenomyeloneuropathy (AMN) and childhood cerebral ALD. Visual system involvement in the adult phenotype is well described as impairment of visual function and optic disc pallor on clinical examination accompanied by demyelination of the optic nerves seen on MRI. Thinning of the retinal nerve fiber layer and ganglion cell death has been described in a neonatal form of ALD. Our patient provides evidence, through ocular coherence tomography scanning of the retina, that such degenerative changes also underlie the visual dysfunction seen in the AMN phenotype.