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Retinal Degenerations pp 415–431Cite as

Effective Treatment for the Canine RPE65 Null Mutation, a Hereditary Retinal Dystrophy Comparable to Human Leber’s Congenital Amaurosis

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Part of the book series: Ophthalmology Research ((OPHRES))

Abstract

Mutations in the human retinal pigment epithelial (RPE)65 gene underlie some forms of early childhood blindness, including a form of Leber’s congenital amaurosis (LCA), early-onset severe retinal dystrophy, and juvenile retinitis pigmentosa (RP) (1–4). LCA is an autosomal recessively inherited disease (5), although a few families with autosomal dominant inheritance have also been reported (6). In general, LCA is diagnosed when there is marked visual impairment from birth, whereas the disease is considered juvenile RP if vision is lost during the first 2 yr of life. Mutations in several genes other than RPE65 have also been identified in other ocular phenotypes designated as LCA (7).

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Author information

Authors and Affiliations

  1. University of Missouri-Columbia, Columbia, MO

    Kristina Narfström DVM, PhD

  2. Molecular Microbiology and Immunology, Life Sciences Center, University of Missouri-Columbia, Columbia, MO

    Gregory E. Tullis PhD

  3. Department of Pathophysiology of Vision and Neuroophthalmology, University Eye Hospital, Tubingen, Germany

    Mathias Seeliger MD, PhD

Authors
  1. Kristina Narfström DVM, PhD
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  2. Gregory E. Tullis PhD
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  3. Mathias Seeliger MD, PhD
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Editor information

Editors and Affiliations

  1. Department of Ophthalmology and Visual Science, Yale University School of Medicine, New Haven, CT

    Joyce Tombran-Tink PhD  & Colin J. Barnstable DPhil  & 

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© 2007 Humana Press Inc., Totowa, NJ

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Narfström, K., Tullis, G.E., Seeliger, M. (2007). Effective Treatment for the Canine RPE65 Null Mutation, a Hereditary Retinal Dystrophy Comparable to Human Leber’s Congenital Amaurosis. In: Tombran-Tink, J., Barnstable, C.J. (eds) Retinal Degenerations. Ophthalmology Research. Humana Press. https://doi.org/10.1007/978-1-59745-186-4_22

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  • DOI: https://doi.org/10.1007/978-1-59745-186-4_22

  • Publisher Name: Humana Press

  • Print ISBN: 978-1-58829-620-7

  • Online ISBN: 978-1-59745-186-4

  • eBook Packages: MedicineMedicine (R0)

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