May 2005
Volume 46, Issue 13
Free
ARVO Annual Meeting Abstract  |   May 2005
Identification of a Potential Keratoconus/PPCD Locus on 6p25
W. Ferrini; C. Willoughby; M.A. Walter; E. Heon
Author Affiliations & Notes
  • W. Ferrini
    Hospital for Sick Children, Department of Genetics & Genomic Biology, Hospital for Sick Children, Toronto, ON, Canada
    Department of Ophthalmology & Vision Sciences, Hospital for Sick Children, Toronto, ON, Canada
  • C. Willoughby
    Department of Ophthalmology, Institute of Clinical Science, The Royal Victoria Hospital, Belfast, United Kingdom
  • M.A. Walter
    Departments of Ophthalmology and Medical Genetics, University of Alberta, Edmonton, AB, Canada
  • E. Heon
    Hospital for Sick Children, Department of Genetics & Genomic Biology, Hospital for Sick Children, Toronto, ON, Canada
    Department of Ophthalmology & Vision Sciences, Hospital for Sick Children, Toronto, ON, Canada
  • Footnotes
    Commercial Relationships  W. Ferrini, None; C. Willoughby, None; M.A. Walter, None; E. Heon, None.
  • Footnotes
    Support  Foudation Fighting Blindness–Canada, Fond National de Recherche Scientifique Suisse
Investigative Ophthalmology & Visual Science May 2005, Vol.46, 4935. doi:
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      W. Ferrini, C. Willoughby, M.A. Walter, E. Heon; Identification of a Potential Keratoconus/PPCD Locus on 6p25 . Invest. Ophthalmol. Vis. Sci. 2005;46(13):4935.

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Abstract

Abstract: : Purpose: Familial cases of Keratoconus (KC) associated with Posterior polymorphous dystrophy (PPCD) have been documented in several reports. We investigated a three–generation UK family with 5 individuals affected with PPCD and KC. Methods:All patients underwent a full eye examination. Genotyping was performed using STRP markers covering the candidate loci on chromosomes 20 (VSX1: KC and PPCD), 1 (COL8A2: Fuchs endothelial dystrophy and PPCD), 15 (KC and cataract), 16 (KC) and 6p25 (FOXC1). Data was analyzed using haplotype analysis. Karyotyping was performed using standard cytogenetic procedures in one affected patient. Mutation analysis of candidate genes and putative regulatory elements were performed using direct sequencing. Results:Clinical examination revealed both KC and PPCD in all affected individuals, with autosomal dominant inheritance pattern and full penetrance. Haplotype and linkage analysis excluded candidate loci on chromosome 20, 1, 15 and 16. Haplotype analysis over 14 cM suggested linkage to the FOXC1 locus on 6p25. Sequencing of FOXC1, FOXF2 and FOXQ1 in this mapped interval failed to show any significant sequence change in the coding sequence and flanking regions. Sequence analysis of a highly conserved CpG island upstream of FOXC1 (putative regulatory element) failed to show any changes. Karyotyping using GTG banding showed no gross structural rearrangements (46, XY). We excluded the possibility of a duplication/deletion using polymorphic markers. Conclusions:The clinical spectrum of KC/PPD is overlapping and complex. The genetic analysis of this family suggests the presence of an additional KC/PPD gene on chromosome 6p25.

Keywords: genetics • anterior segment • linkage analysis 
© 2005, The Association for Research in Vision and Ophthalmology, Inc., all rights reserved. Permission to republish any abstract or part of an abstract in any form must be obtained in writing from the ARVO Office prior to publication.
Copyright © 2025 Association for Research in Vision and Ophthalmology.
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