Jafari Narjes, Golnik Karl, Shahriari Mansoor, Karimzadeh Parvaneh, Jabbehdari Sayena
Pediatric Neurology Research Center, Mofid Children Hospital, Faculty of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
Department of Ophthalmology, University of Cincinnati, Cincinnati, Ohio, USA.
J Ophthalmic Vis Res. 2018 Jan-Mar;13(1):34-38. doi: 10.4103/jovr.jovr_242_16.
We aimed to present the ophthalmic manifestations of neuro-metabolic disorders.
Patients who were diagnosed with neuro-metabolic disorders in the Neurology Department of Mofid Pediatric Hospital in Tehran, Iran, between 2004 and 2014 were included in this study. Disorders were confirmed using clinical findings, neuroimaging, laboratory data, and genomic analyses. All enrolled patients were assessed for ophthalmological abnormalities.
A total of 213 patients with 34 different neuro-metabolic disorders were included. Ophthalmological abnormalities were observed in 33.5% of patients. Abnormal findings in the anterior segment included Kayser-Fleischer rings, congenital or secondary cataracts, and lens dislocation into the anterior chamber. Posterior segment (i.e., retina, vitreous body, and optic nerve) evaluation revealed retinitis pigmentosa, cherry-red spots, and optic atrophy. In addition, strabismus, nystagmus, and lack of fixation were noted during external examination.
Ophthalmological examination and assessment is essential in patients that may exhibit neuro-metabolic disorders.
我们旨在呈现神经代谢紊乱的眼部表现。
本研究纳入了2004年至2014年间在伊朗德黑兰莫菲德儿童医院神经科被诊断为神经代谢紊乱的患者。通过临床检查、神经影像学、实验室数据和基因组分析来确诊疾病。对所有纳入研究的患者进行眼科异常评估。
共纳入213例患有34种不同神经代谢紊乱的患者。33.5%的患者存在眼科异常。前段异常表现包括凯-弗环、先天性或继发性白内障以及晶状体脱入前房。后段（即视网膜、玻璃体和视神经）评估显示有色素性视网膜炎、樱桃红斑和视神经萎缩。此外，在外眼检查中还发现了斜视、眼球震颤和注视缺失。
对于可能患有神经代谢紊乱的患者，眼科检查和评估至关重要。
