Condition: MACULAR DYSTROPHY, VITELLIFORM, 5
rs201893545 in
IMPG2 gene and
MACULAR DYSTROPHY, VITELLIFORM, 5
PMID 20673862 2010 Mutations in IMPG2, encoding interphotoreceptor matrix proteoglycan 2, cause autosomal-recessive retinitis pigmentosa.
PMID 25085631 2014 Frequency and clinical pattern of vitelliform macular dystrophy caused by mutations of interphotoreceptor matrix IMPG1 and IMPG2 genes.
PMID 28644393 2017 Mutations in the Genes for Interphotoreceptor Matrix Proteoglycans, IMPG1 and IMPG2, in Patients with Vitelliform Macular Lesions.