IOVS Am. J. Pathology
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(Investigative Ophthalmology and Visual Science. 2005;46:4480-4484.)
© 2005 by The Association for Research in Vision and Ophthalmology, Inc.
DOI:  10.1167/iovs.05-0269
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Posterior Polymorphous Corneal Dystrophy in Czech Families Maps to Chromosome 20 and Excludes the VSX1 Gene

Rhian Gwilliam,1,2 Petra Liskova,2,3,4 Martin Filipec,4 Stanislav Kmoch,5 Katerina Jirsova,4 Elizabeth J. Huckle,1 Catherine L. Stables,1 Shomi S. Bhattacharya,3 Alison J. Hardcastle,3 Panos Deloukas,1 and Neil D. Ebenezer3

1From The Wellcome Trust Sanger Institute, Hinxton, United Kingdom; the 3Division of Molecular Genetics, Institute of Ophthalmology, University College London, London, United Kingdom; the 4Laboratory and Ocular Tissue Bank, Department of Ophthalmology, and the 5Centre for Applied Genomics, Institute for Inherited Metabolic Disorders, Charles University, Prague, Czech Republic.

PURPOSE. Posterior polymorphous corneal dystrophy (PPCD) is an autosomal dominant disorder, affecting both the corneal endothelium and Descemet’s membrane. In the Czech Republic, PPCD is one of the most prevalent corneal dystrophies. The purpose of this study was to determine the chromosomal locus of PPCD in two large Czech families, by using linkage analysis.

METHODS. Linkage analysis was performed on 52 members of two Czech families with PPCD and polymorphic microsatellite markers and lod scores were calculated. The candidate gene VSX1 was also screened for mutations.

RESULTS. Significant lod scores were obtained with microsatellite markers on chromosome 20. Linkage analysis delineated the Czech PPCD locus to a 2.7-cM locus on chromosome 20, region p11.2, between flanking markers D20S48 and D20S139, which excluded VSX1 as the disease-causing gene in both families. In addition, the exclusion of VSX1 was confirmed by sequence analysis.

CONCLUSIONS. This study reports the localization of PPCD in patients of Czech origin to chromosome 20 at p11.2. Linkage data and sequence analysis exclude VSX1 as causative of PPCD in two Czech families. This refined locus for PPCD overlaps the congenital hereditary endothelial dystrophy (CHED1) disease interval, and it is possible that these corneal dystrophies are allelic.




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