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Genetic markers of exfoliation syndrome in Georgian population

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Session Details

Session Title: Presented Poster Session: Infections & Syndromes

Venue: Poster Village: Pod 3

First Author: : G.Chichua GEORGIA

Co Author(s): :    N. Kobakhidze   C. Khor   T. Aung                 

Abstract Details


The aim of this study was to determine the possible association of high risk single nucleotide polymorphisms (SNPs) in LOXL1, CACNA1A, POMP, TMEM, AGPAT1, RBMS3 and SEMA6A genes with Exfoliation Syndrome in Georgian population and to compare with reported global data.


1.Chichua Medical Center Mzera, Tbilisi, Georgia 2.Singapore Eye Research Institute, Singapore 3.Singapore National Eye Centre, Singapore


One hundred and thirty-two patients with XFS and 199 normal subjects were included in this study. After signing an informed consent patients underwent venous blood sampling. Genome-wide association study (GWAS) was conducted using Illumina OmniExpress microarray.


Frequency of LOXL1 rs4886776 was 91.5% in exfoliation cases and 79% in controls, P = 0.0001, OR=2.86, frequencies of LOXL1 rs8041685 was 96.5% and 82.6% respectively (P=0.000001, OR=5.78). Frequency of CACNA1A rs4926244 was 21% in XFS patients and 19% in controls (P = 0.4, OR =1.19 ).Frequencies of rarer genes for XFS cases and controls respectively ware as follows: POMP rs7329408 - 11% vs 10% (P=0.9 and OR=1.035), TMEM rs11827818 - 13%vs 16% (P=0.28, OR=0.75), AGPAT1 rs3130283 - 0.09% vs 0.07% (P=0.5, OR=1.25), RBMS3 rs12490863 - 12% vs 10% (P=0.38, OR=1.28) and SEMA6A rs10072088 – 20% vs 28% (P=0.04, OR=0.64).


SNPs of the LOXL1, CACNA1A POMP, AGPAT1, RBMS3 and SEMA6A genes are associated with XFS in the Georgian population. Our data are consistent with reported findings in European and Asian populations. Although, further studies are needed to provide more insight into pathogenesis of the disease.

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