CEP290, centrosomal protein 290, 80184

N. diseases: 196; N. variants: 100
Disease: Severe visual impairment ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1301509
Disease: Severe visual impairment
Severe visual impairment 		0.010 Biomarker disease BEFREE CEP290-LCA patients retain a central island of photoreceptors with normal thickness at the fovea (despite severe visual loss); the extent of this island declined slowly with age. 24671090 2014