Document Type


Date of Degree

Spring 2011

Degree Name

PhD (Doctor of Philosophy)

Degree In


First Advisor

Edwin M. Stone

First Committee Member

Val C Sheffield

Second Committee Member

Thomas H Wassink

Third Committee Member

Josep M Comeron

Fourth Committee Member

Kai Wang


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.


ABCA4, AMD, eye, retina, SNP, Stargardt


xi, 177 pages


Includes bibliographical references (pages 164-177).


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Copyright 2011 Emily Isaak Schindler

Included in

Genetics Commons