Department of Ophthalmology, Faculty of Medical and Health Sciences, Private Bag 92019, University of Auckland, Auckland Mail Centre, Auckland 1142, New Zealand.
J Clin Neurosci. 2010 Jan;17(1):122-4. doi: 10.1016/j.jocn.2009.08.019. Epub 2009 Dec 11.
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.
肾上腺脑白质营养不良（ALD）是一组代谢性疾病，其特征是所有组织中长链脂肪酸的积累。两种最常见的 ALD 表型是成人发病的肾上腺脑白质营养不良（AMN）和儿童脑型 ALD。成人表型的视觉系统受累表现为视力损害和临床检查时视盘苍白，伴有 MRI 显示视神经脱髓鞘。在新生儿型 ALD 中已经描述了视网膜神经纤维层变薄和节细胞死亡。我们的患者通过视网膜相干断层扫描提供了证据，证明 AMN 表型中所见的视觉功能障碍也与这种退行性变化有关。
