May 2003
Volume 44, Issue 13
Free
ARVO Annual Meeting Abstract  |   May 2003
Genotype-phenotype Correlations in Heritable Retinoblastoma
Author Affiliations & Notes
  • K.B. Desai
    Dept. of Ophthalmology, University of California San Francisco, San Francisco, CA, United States
  • K.R. Van Quill
    Dept. of Ophthalmology, University of California San Francisco, San Francisco, CA, United States
  • T. Tsai
    Dept. of Ophthalmology, University of California San Francisco, San Francisco, CA, United States
  • B. Gallie
    Dept. of Ophthalmology, The Hospital for Sick Children, Toronto, ON, Canada
  • J.M. O'Brien
    Dept. of Ophthalmology, The Hospital for Sick Children, Toronto, ON, Canada
  • Footnotes
    Commercial Relationships  K.B. Desai, None; K.R. Van Quill, None; T. Tsai, None; B. Gallie, None; J.M. O'Brien, None.
  • Footnotes
    Support  National Eye Institute Grant EY13812
Investigative Ophthalmology & Visual Science May 2003, Vol.44, 1574. doi:
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    • Get Citation

      K.B. Desai, K.R. Van Quill, T. Tsai, B. Gallie, J.M. O'Brien; Genotype-phenotype Correlations in Heritable Retinoblastoma . Invest. Ophthalmol. Vis. Sci. 2003;44(13):1574.

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      © ARVO (1962-2015); The Authors (2016-present)

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Abstract

Abstract: : Purpose: To determine whether mutation analysis can be used to predict disease expression in patients with heritable retinoblastoma (RB). Methods: A retrospective analysis of patients with heritable retinoblastoma was performed using records from University of California, San Francisco Medical Center and The Hospital for Sick Children, University of Toronto, with institutional IRB approval. Age of disease onset and severity of disease at presentation, as well as clinical course, were correlated with underlying RB mutations. Results: A total of 87 patients with complete clinical information had mutation identification by protein truncation testing (PTT), quantitative multiplex-polymerase chain reaction (QM-PCR), and fluorescent in situ hybridization (FISH) or karyotype analysis. Conclusions: Grouping mutations by degree of induced retinoblastoma protein (pRb) dysfunction provides a means to correlate genotype with observed phenotype presentations. Such an approach could allow stratification of patients and identification of those at risk for severe disease outcomes.

Keywords: retinoblastoma • mutations • gene/expression 
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