VEGFA variants as prognostic markers for the retinopathy in pseudoxanthoma elasticum

Pseudoxanthoma elasticum (PXE) is a rare autosomal recessive ectopic mineralization disorder, characterized by skin, eye and cardiovascular symptoms. The most devastating ocular complication is choroidal neovascularization, which is thought to be mediated by vascular endothelial growth factor (VEGF)...

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Bibliographic Details
Published in:Clinical genetics 2020-07, Vol.98 (1), p.74-79
Main Authors: De Vilder, Eva Y.G., Hosen, Mohammad J., Martin, Ludovic, De Zaeytijd, Julie, Leroy, Bart P., Ebran, Jean‐Marc, Coucke, Paul J., De Paepe, Anne, Vanakker, Olivier M.
Format: Article
Language:English
Subjects:
Acuity
Angiogenesis
Genetic variability
Genotypes
Hereditary diseases
Mineralization
modifier gene
Phenotypes
pseudoxanthoma elasticum
Retinopathy
risk stratification
translational medicine
validation
Vascular endothelial growth factor
Vascularization
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Summary:Pseudoxanthoma elasticum (PXE) is a rare autosomal recessive ectopic mineralization disorder, characterized by skin, eye and cardiovascular symptoms. The most devastating ocular complication is choroidal neovascularization, which is thought to be mediated by vascular endothelial growth factor (VEGF) signaling, a molecule encoded by the VEGFA gene. As early detection and treatment is essential to preserve vision, prioritization of patients at risk is crucial, but impossible because of wide phenotypic variability and a lack of genotype‐phenotype correlations for PXE. 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 severe retinopathy were a unilateral best‐corrected visual acuity of
ISSN:0009-9163
1399-0004
DOI:10.1111/cge.13751