Proteomic analysis of human autosomal recessive retinitis pigmentosa (arRP) vitreous

Mutations in PDE6 contribute to a significant fraction of retinitis pigmentosa (RP) cases (7-9%; OMIM: 180071). Vitreous biopsies were collected from two autosomal recessive RP (arRP) patients with PDE6A mutations undergoing epiretinal membrane removal. Epiretinal membrane (ERM) vitreous samples from two patients without RP were used as comparative controls. Vitreous samples were analyzed using shotgun liquid chromatography-tandem mass spectrometry (LC-MS/MS) to determine proteomic content.

PDE6突变占色素性视网膜炎（retinitis pigmentosa, RP）病例的7%~9%（OMIM：180071）。本研究从2例携带PDE6A突变、接受视网膜前膜剥除术的常染色体隐性遗传RP（autosomal recessive RP, arRP）患者体内获取玻璃体活检样本；另选取2例无视网膜色素性视网膜炎患者的视网膜前膜（epiretinal membrane, ERM）玻璃体样本作为对照。所有玻璃体样本均采用鸟枪法液相色谱-串联质谱（shotgun liquid chromatography-tandem mass spectrometry, LC-MS/MS）进行分析，以确定其蛋白质组组成。