Dissertation/Thesis Abstract

Genetics of inherited retinal degeneration
by Schindler, Emily Isaak, Ph.D., The University of Iowa, 2011, 192; 3461416
Abstract (Summary)

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. The 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.

Indexing (document details)
Advisor: Stone, Edwin M.
Commitee: Comeron, Josep M., Sheffield, Val C., Wang, Kai, Wassink, Thomas H.
School: The University of Iowa
Department: Genetics
School Location: United States -- Iowa
Source: DAI-B 72/10, Dissertation Abstracts International
Subjects: Genetics
Keywords: Abca4, Amd, Eye, Retina, Retinal degeneration, Snp, Stargardt
Publication Number: 3461416
ISBN: 978-1-124-74665-4
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