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.