RPE, ribulose-5-phosphate-3-epimerase, 6120

N. diseases: 90; N. variants: 4
Disease: Retinoschisis ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0152439
Disease: Retinoschisis
Retinoschisis 		0.020 GeneticVariation disease BEFREE OCT showed full-thickness retinal thickening and disorganisation, intra-retinal fluid in two cases, sectoral RPE atrophy with photoreceptor loss in one case, RPE thickening and foveal pigment migration in one case; epiretinal membrane associated with 'mini peaks' of the inner retina in all cases and vitreous traction causing retinoschisis in one case.All lesions were hypo-autofluorescent. 29789660 2018
CUI: C0152439
Disease: Retinoschisis
Retinoschisis 		0.020 Biomarker disease BEFREE Atrophy of RPE can cause retinoschisis in eyes with pachychoroid. 31222406 2019