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Johannes P. van de Ven, Camiel J. Boon, Björn Bakker, Marcel van Deuren, Carel B. Hoyng, Anneke I. den Hollander; SERPING1 Gene Mutations are Not Associated with Drusen Development in Patients with Hereditary Angioedema. Invest. Ophthalmol. Vis. Sci. 2011;52(14):5248.
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Recently an association between age-related macular degeneration (AMD) and a genetic variant in SERPING1, a regulator of the classical complement pathway, was suggested, but this was not replicated in other independent studies. The present study was conducted to determine whether aged patients with hereditary angioedema (HAE) carrying mutations in the SERPING1 gene develop drusen.
Patients with HAE over age 50 were recruited by an advertisement. Medical history was documented through a questionnaire and non-stereoscopic 30° color fundus photography, fluorescein angiography, and high-resolution spectral-domain optical coherence tomography were performed. Venous blood samples were drawn for genomic DNA extraction and all coding exons and splice junctions of the SERPING1 gene were analyzed by direct sequencing.
In 5 out of 8 unrelated HAE patients we identified 3 different heterozygous mutations in the SERPING1 gene: c.685+1G>T; p.Leu197SerfsX14 and p.Leu243Pro. These 5 patients ranged from 64 to 70 years of age. One out of 5 mutation carriers was affected by drusen, while the other SERPING1 mutation carriers did not show drusenoid retinal pathology.
We show that mutations in the SERPING1 gene are not commonly associated with drusen development in patients with HAE. These results do not support a previous study describing an association between variants in the SERPING1 gene and AMD.
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