VEGFA variants as prognostic markers for the retinopathy in Pseudoxanthoma elasticum.

This study aimed to validate the previously suggested association of five single nucleotide VEGFA variants (rs13207351, rs833061, rs699947, rs25648 and rs1413711) with a severe PXE retinopathy in an independent cohort. Direct Sanger sequencing was performed in 100 PXE patients, with a mild (56) or severe (44) PXE retinopathy. The inclusion criteria for a severe retinopathy were a unilateral best-corrected visual acuity of <5/10 and/or the need for anti-angiogenic treatment. We found a significant association of three out of five variants and borderline missed significance for one. These data further suggest the VEGFA gene to be a modifier gene for the PXE retinopathy. Hereby, we provide the necessary evidence to implement these variants in ocular risk stratification and individualized patient follow-up. This article is protected by copyright. All rights reserved.
PMID: 32270475 [PubMed - as supplied by publisher]

Source: Clinical Genetics - April 7, 2020 Category: Genetics & Stem Cells Authors: De Vilder EYG, Hosen MJ, Martin L, De Zaeytijd J, Leroy BP, Ebran JM, Coucke PJ, De Paepe A, Vanakker OM Tags: Clin Genet Source Type: research