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Whole exome sequencing (WES) in age-related macular degeneration (AMD) patients uncovers novel mutations in macular degeneration genes

Session Details

Session Title: AMD II

Session Date/Time: Friday 12/09/2014 | 08:00-10:00

Paper Time: 08:40

Venue: Boulevard D

First Author: : E.Pras ISRAEL

Co Author(s): :    N. Shoshany   I. Vulih   D. Volodarsky   O. Isakov   D. Kristal  

Abstract Details


We aimed to explore genetic mechanisms of AMD using WES. Methods


Genetic analysis and phenotypic description


We performed WES of four AMD patients (two sets of sibs from families Famd4700601,03 and Famd4700701-02) and searched for potentially disease-causing genetic variants in previously identified macular degeneration related genes. Subsequent mutation analysis of a cohort of AMD patients was performed.


Participants were diagnosed during age 50-60 displaying a wide variety in clinical presentations, ranging from limited large drusen to extensive BLD in the posterior pole as well as peripheral retina. Severe visual impairment due to extensive geographic atrophy and/or CNV was common by age 75. A probable causing mutation was identified for each family. Approximately, 400,000 genomic variants for each DNA sample were included in the downstream Bio-informatic analysis. Two novel mutations; c.4162delC in Fibulin-6 and p.V412M in the Complement Factor I gene (CFI), were identified in in Famd47007 and in Famd47006 respectively. Subsequent mutation screening analysis identified more familial AMD cases.


Novel mutations in key elements of the complement system and bruchs membrane were identified. To the best of our knowledge, this is the first report where WES has been utilized to uncover rare genetic variations in AMD. A novel CFI missense mutation has been identified in AMD families of North-AFriday 12 Septembercan Jewish ethnicity, and the first description of a null FBLN6 mutation. The present report illustrates both the genetic complexity and the pivotal role of complement system and components of bruchs membrane in AMD pathogenesis

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