Velez Gabriel, Roybal C Nathaniel, Binkley Elaine, Bassuk Alexander G, Tsang Stephen H, Mahajan Vinit B
Omics Laboratory, University of Iowa, Iowa City, IA.
Departments of Ophthalmology, University of Iowa, Iowa City, IA.
Am J Ophthalmol Case Rep. 2017 Apr;5:107-110. doi: 10.1016/j.ajoc.2016.12.023. Epub 2017 Jan 3.
To report a case of elevated intraocular pressure with retinal detachment.
Liquid chromatography and tandem mass spectrometry was performed on the patient aqueous biopsy. Protein levels were analyzed with 1-way analysis of variance (ANOVA) and unbiased clustering. High levels of rod outer segment proteins were not detected, suggesting that this was not a case of Schwartz-Matsuo syndrome. Instead, elevated levels of Hepcidin (HEPC) and Cystatin C (CYTC; candidate biomarkers for primary open angle glaucoma) were detected, suggesting a different, unknown etiology.
Molecular diagnoses can differentiate between clinical diagnoses and point to common biomarkers or disease mechanisms.
报告一例伴有视网膜脱离的眼压升高病例。
对患者的房水活检样本进行了液相色谱和串联质谱分析。采用单向方差分析（ANOVA）和无偏聚类分析蛋白质水平。未检测到高水平的视杆细胞外段蛋白，提示这不是施瓦茨 - 松尾综合征病例。相反，检测到铁调素（HEPC）和胱抑素C（CYTC；原发性开角型青光眼的候选生物标志物）水平升高，提示存在不同的、未知的病因。
分子诊断可区分临床诊断，并指向常见的生物标志物或疾病机制。
