眼科检查在神经遗传性疾病诊断及评估中的应用

Application of ophthalmic examinations in the diagnosis and evaluation of neurogenetic diseases

神经遗传性疾病在临床上较罕见,且常因有多系统受累,临床表现复杂多变,故在疾病诊断,尤其在散发的不典型病例中更为困难。眼部,尤其是视网膜为中枢神经系统可视窗口,因其从胚胎期的神经管发育而来的,故在神经遗传性疾病中多有受累。利用眼底照相、光学相干层析成像(OCT)等常见眼科检查,可发现特征性的眼部改变。本文主要按照解剖分类,从眼球壁(角膜、巩膜、虹膜和脉络膜、视网膜)、眼内容物(玻璃体、晶状体)及视神经等几个方面,综述常见的有特征性眼部改变神经遗传性疾病,以提高临床医师对眼科检查在此类疾病中应用的认识,促进疾病的诊断。

Neurogenic diseases are rare in clinic and often are complex and variable due to the multisystem involvement, which make them more difficult to diagnose, in sporadic and atypical cases in especial.The eye, especially the retina as a visual window of the central nervous system, develops from the embryonic neural tube so that it is often affected in neurogenetic diseases. Common ophthalmic examinations such as fundus photography and optical coherence tomography(OCT) reveal characteristic ocular changes. This review summarizes and analyzes the application of ophthalmic examinations in neurogenetic diseases according to the anatomical level, from the eyewall(cornea, sclera, choroid and retina), eye content(vitreous and lens) to the optic nerve, in order to improve clinicians’ understanding of opthalmic examination in the diagnosis of such diseases.