Mutations in the Genes for Interphotoreceptor Matrix Proteoglycans, IMPG1 and IMPG2, in Patients with Vitelliform Macular Lesions

URN to cite this document:: urn:nbn:de:bvb:355-epub-364134
DOI to cite this document:: 10.5283/epub.36413

Brandl, Caroline

; Schulz, Heidi ; Charbel Issa, Peter ; Birtel, Johannes ; Bergholz, Richard ; Lange, Clemens ; Dahlke, Claudia ; Zobor, Ditta ; Weber, Bernhard ; Stöhr, Heidi

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Date of publication of this fulltext: 05 Dec 2017 14:42

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Abstract

A significant portion of patients diagnosed with vitelliform macular dystrophy (VMD) do not carry causative mutations in the classic VMD genes BEST1 or PRPH2. We therefore performed a mutational screen in a cohort of 106 BEST1/PRPH2-negative VMD patients in two genes encoding secreted interphotoreceptor matrix proteoglycans-1 and -2 (IMPG1 and IMPG2). We identified two novel mutations in IMPG1 in ...