May 2005
Volume 46, Issue 13
Free
ARVO Annual Meeting Abstract  |   May 2005
Mutation Analysis of Fibulin 5 in a United Kingdom Cohort of Age–Related Macular Degeneration Patients
A.J. Lotery; K. Avery; S.V. Goverdhan; A.J. Luff; A.J. Booth; D. Trump
Author Affiliations & Notes
  • A.J. Lotery
    Ophthalmology – Eye Unit,
    Human Genetics Division,
    University of Southampton, Southampton, United Kingdom
  • K. Avery
    Human Genetics Division,
    University of Southampton, Southampton, United Kingdom
  • S.V. Goverdhan
    Human Genetics Division,
    University of Southampton, Southampton, United Kingdom
  • A.J. Luff
    Ophthalmology – Eye Unit,
    University of Southampton, Southampton, United Kingdom
  • A.J. Booth
    Ophthalmology – Eye Unit,
    University of Southampton, Southampton, United Kingdom
  • D. Trump
    Department of Medical Genetics, University of Manchester, Southampton, United Kingdom
  • Footnotes
    Commercial Relationships  A.J. Lotery, None; K. Avery, None; S.V. Goverdhan, None; A.J. Luff, None; A.J. Booth, None; D. Trump, None.
  • Footnotes
    Support  Guernsey Hope Research Fellowship, Gift of Sight, BCPB,De Laszlo & TFC Frost trusts. Dr Edwin Stone
Investigative Ophthalmology & Visual Science May 2005, Vol.46, 1150. doi:
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      A.J. Lotery, K. Avery, S.V. Goverdhan, A.J. Luff, A.J. Booth, D. Trump; Mutation Analysis of Fibulin 5 in a United Kingdom Cohort of Age–Related Macular Degeneration Patients . Invest. Ophthalmol. Vis. Sci. 2005;46(13):1150.

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Abstract

Abstract: : Purpose: To assess the allelic variation of fibulin 5 in a United Kingdom cohort of age related macular degeneration patients (AMD). Methods: 514 caucasian subjects with AMD and 188 normal controls were recruited from ophthalmic clinics at the Southampton Eye Unit and the island of Guernsey. AMD phenotypes were characterised by clinical examination, stereoscopic fundus photography, fluorescein angiography and optical coherence tomography, The cohort was screened for mobility band shifts in fibulin 5 amplimers by single stranded conformation polymorphism (SSCP) and automated silver staining. Samples showing band shifts were then direct sequenced on an ABI 3100 Genetic Analyzer. Novel mutations were then expressed in transfected cells. Results: Two novel missense mutations were identified in three AMD patients. In addition two intronic and two synonymous coding changes were each observed in six patients. The two observed missense changes secreted normally. A recurring phenotype of bilateral symmetrical basal laminar drusen was observed in AMD patients with fibulin 5 changes. Conclusions: This study identifies additional novel missence mutations in the Fibulin 5 gene in AMD and confirms that these changes are associated with basal laminar drusen.

Keywords: age-related macular degeneration • genetics • mutations 
© 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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