May 2004
Volume 45, Issue 13
Free
ARVO Annual Meeting Abstract  |   May 2004
A novel locus for human polymorphic congenital cataract.
P.K. F. Addison; V. Berry; K.R. Holden; B. Rivera; H. Su; A.K. Srivastava; S.S. Bhattacharya
Author Affiliations & Notes
  • P.K. F. Addison
    Molecular Genetics, Institute of Ophthalmology, London, United Kingdom
  • V. Berry
    Molecular Genetics, Institute of Ophthalmology, London, United Kingdom
  • K.R. Holden
    J.C. Self Research Institute of Human Genetics, Greenwood Genetic Center, Greenwood, SC
  • B. Rivera
    Oftalmocentro, Hospital San Filepe, Tegucigalpa, Honduras
  • H. Su
    Oftalmocentro, Hospital San Filepe, Tegucigalpa, Honduras
  • A.K. Srivastava
    J.C. Self Research Institute of Human Genetics, Greenwood Genetic Center, Greenwood, SC
  • S.S. Bhattacharya
    Molecular Genetics, Institute of Ophthalmology, London, United Kingdom
  • Footnotes
    Commercial Relationships  P.K.F. Addison, None; V. Berry, None; K.R. Holden, None; B. Rivera, None; H. Su, None; A.K. Srivastava, None; S.S. Bhattacharya, None.
  • Footnotes
    Support  Wellcome Trust Grant 063969/Z/01/Z/JHW/NP/RH
Investigative Ophthalmology & Visual Science May 2004, Vol.45, 4749. doi:
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      P.K. F. Addison, V. Berry, K.R. Holden, B. Rivera, H. Su, A.K. Srivastava, S.S. Bhattacharya; A novel locus for human polymorphic congenital cataract. . Invest. Ophthalmol. Vis. Sci. 2004;45(13):4749.

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Abstract

Abstract: : Purpose: To genetically map a three generation family from Honduras with autosomal dominant polymorphic congenital cataract. Methods27 members of the family (17 affected and 10 unaffected) were ascertained with regards to dominantly inherited polymorphic congenital cataract. A full clinical examination was performed, pedigree data were collated and leukocyte DNA was extracted from venous blood for subsequent molecular genetic analysis. Linkage analysis by PCR–based microsatellite marker genotyping was used to map the disease locus. Results: All known loci for polymorphic congenital cataract were excluded. Conclusions: There is heterogeneity for dominant polymorphic congenital cataract. A new locus has been found. This subject population is different from those in whom loci have been previously reported. Whole genome scan in this family is currently underway.

Keywords: cataract • gene mapping • genetics 
© 2004, 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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