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BRCA1/2 Mutations Are Not Associated With Risk Of Exudative Age-related Macular Degeneration In Ashkenazi Jews | 31255
ISSN: 2155-9570

Journal of Clinical & Experimental Ophthalmology
Open Access

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BRCA1/2 mutations are not associated with risk of exudative age-related macular degeneration in ashkenazi Jews

5th International Conference on Clinical & Experimental Ophthalmology

Shirel Rossnewasser-Weiss1,2, Mohammed Azab3, Mali Salmon-Divon4, Gili Tessler-Betzalel5, Yoram Cohen2,7 and Nitza Goldenberg-Cohena1,2,6

Posters-Accepted Abstracts: J Clin Exp Ophthalmol

DOI: 10.4172/2155-9570.S1.025


Purpose: Age-related macular degeneration (AMD) is pathophysiologically linked to abnormal DNA repair and increased
expression of vascular endothelial growth factor (VEGF). The BRCA1/2 gene is involved in maintaining genome stability and the
increase in VEGF in tumors with a BCRA1/2 mutation. Therefore, we hypothesized that BRCA1/2 mutations may be associated
with the development of exudative (wet) AMD and neovascularization together with age-related DNA damage.
Methods: Genomic DNA was extracted from peripheral blood leukocytes of 52 Ashkenazi Jewish patients with wet AMD and
tested for mutations in BRCA1 (c.5382insC and 185delAG) and BRCA2 (c.6174delT) using high-resolution melt analysis and
direct sequencing.
Results: No BRCA1 mutations were found and only one patient (1.92%) carried the BRCA2 mutation.
Conclusions: The findings suggested that a disruption in the BRCA1/2 mechanism plays no role in age-related neovascularization
of the wet macula in this ethnic group.


Shirel Rossnewasser-Weiss is a 3rd year PhD student at the Krieger Eye Research Laboratory, The Felsenstein Medical Research Center, Tel Aviv University. During her
studies she was trained for basic science vision research. So far, her studies have focused on genetics of degenerative retinal disease and bioinformatics analysis. She is
also involved in ocular and brain tumors studies, pathophysiology of ocular diseases, neuroprotection and stem cell therapy. She participated in national and international
conferences including ARVO and her publications include 4 papers in peer review journals in which she was a co-author.