Document Type

Dissertation

Date of Degree

Spring 2011

Degree Name

PhD (Doctor of Philosophy)

Degree In

Genetics

First Advisor

Edwin M. Stone

Abstract

Heritable retinal degenerations dramatically affect individuals across the lifespan. Heritable degenerations with onset in childhood or young adulthood, such as the ABCA4- associated maculopathies, generally obey Mendelian segregation and are attributable to mutations within a single gene. Retinal degenerations with onset in late adulthood, such as age-related macular degeneration, are usually influenced by a complex constellation of genetic and environmental factors. This thesis applies several complementary, high-throughput genotyping platforms to identify relationships between specific heritable retinal phenotypes and genetic variation. This findings of this thesis will aid in the development of guidelines for inclusion in retinal gene therapy trials and help physicians refine their prognoses based on genetic information.

Keywords

ABCA4, AMD, eye, retina, SNP, Stargardt

Pages

xi, 177 pages

Bibliography

Includes bibliographical references (pages 164-177).

Comments

This thesis has been optimized for improved web viewing. If you require the original version, contact the University Archives at the University of Iowa: http://www.lib.uiowa.edu/sc/contact/.

Copyright

Copyright 2011 Emily Isaak Schindler

Included in

Genetics Commons

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