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(Investigative Ophthalmology and Visual Science. 2007;48:4136-4142.)
© 2007 by The Association for Research in Vision and Ophthalmology, Inc.
doi:10.1167/iovs.06-1092
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Genome-Wide Scan of Exfoliation Syndrome

Susanna Lemmelä,1 Eva Forsman,2 Pertti Sistonen,3 Aldur Eriksson,2 Henrik Forsius,2 and Irma Järvelä1,4

1From the Department of Medical Genetics, University of Helsinki, Helsinki, Finland; the 2Population Genetics Unit, Folkhälsan Institute of Genetics, Helsinki, Finland; the 3Red Cross of Finland Blood Service, Helsinki, Finland; and the 4Laboratory of Molecular Genetics, Helsinki University Hospital, Helsinki, Finland.

PURPOSE. Exfoliation syndrome (XFS) is an age-related ocular condition that is characterized by the accumulation of fibrillogranular extracellular material in intra- and extraocular tissues. The purpose of the present study was to identify the genetic basis of XFS in a large Finnish family.

METHODS. A genome-wide scan with 1000 microsatellite markers was performed in an extended family from an island in the southwestern Finnish archipelago where XFS demonstrates an autosomal dominant mode of inheritance with incomplete penetrance. Two-point linkage analyses were performed with MLINK and multipoint linkage, using the Vitesse program.

RESULTS. Five chromosomal regions with markers showing two-point LOD scores more than 1.5 was identified by using a dominant mode of inheritance for the XFS trait. The most promising locus was assigned to 18q12.1-21.33 with a maximum two-point LOD score of 3.45 and a multipoint LOD score of 4.2. Some evidence of linkage was obtained at chromosomes 2q, 17p, and 19q, which were suggested in earlier reports to be possible regions of linkage to primary open-angle glaucoma (POAG).

CONCLUSIONS. The study presented herein offers a starting point to unravel the molecular background of XFS.




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