Genetics of high myopia in Polish families

Abstract

Abstract Purpose Myopia is the most common of all ocular conditions. In high myopia, genetic factors appear to play a predominant role. The purpose of this study is to verify the available data and to identify a new high myopia susceptibility locus (loci). Methods Fifty two families with multiple members were diagnosed with high myopia (<‐6 diopters) without other ocular or systemic features. Prior to the targeting genotyping, linkage to markers for the myopic genetic syndromes were tested and genotyping of high myopia associated loci was performed. Next, we performed genome wide screen with 1) fluorescent markers with an average spacing of 8 cM spanning all chromosomes and 2) Affymetrix Genome‐Wide Human SNP Array 6.0 which contains 906,600 SNPs and 946,000 copy number probes. Results All previously reported high myopia loci were excluded in Polish families. The genome‐wide screen for a high myopia identified three novel loci. These loci are currently being verified using SNP array in the largest multigenerational family. Conclusion We have identified, collected and characterized a large cohort of polish families with high myopia and excluded the principal genetic cause of this phenotype. These families will be instrumental in identifying one or more loci for genetic high myopia.