May 2008
Volume 49, Issue 13
Free
ARVO Annual Meeting Abstract  |   May 2008
Retinomas : A Genotype-Phenotype Correlation
Author Affiliations & Notes
  • H. Abouzeid
    Jules-Gonin Eye Hospital, University of Lausanne, Switzerland
  • A. Balmer
    Jules-Gonin Eye Hospital, University of Lausanne, Switzerland
  • D. F. Schorderet
    IRO-Institute for Research in Ophthalmology, Sion, Switzerland
    EPFL-Ecole Polytechnique Fédérale de Lausanne, Lausanne, Switzerland
  • F. L. Munier
    Jules-Gonin Eye Hospital, University of Lausanne, Switzerland
  • Footnotes
    Commercial Relationships  H. Abouzeid, None; A. Balmer, None; D.F. Schorderet, None; F.L. Munier, None.
  • Footnotes
    Support  Grant # 32-111948 from the Swiss National Science Foundation
Investigative Ophthalmology & Visual Science May 2008, Vol.49, 3112. doi:https://doi.org/
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    • Get Citation

      H. Abouzeid, A. Balmer, D. F. Schorderet, F. L. Munier; Retinomas : A Genotype-Phenotype Correlation. Invest. Ophthalmol. Vis. Sci. 2008;49(13):3112. doi: https://doi.org/.

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

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Abstract

Purpose: : To study phenotype-genotype correlation in patients with hereditary retinoma, a benign tumor wich presents either as an old retinal scar or as a mass resembling the post irradiation regression pattern of retinoblastoma.

Methods: : We selected bilaterally affected patients with retinoma in one eye and either retinoma or retinoblastoma in the other eye. All patients underwent full ophthalmic examination. After obtaining informed consent, DNA was extracted from peripheral blood leucocytes and the RB1 gene was screened by DHPLC and direct sequencing of the promoter and all the exons.

Results: : Twenty-one patients with available DNA were included in the study. We identified a germline mutation in 16 of the 21 patients. Out of the 16 patients with identified mutations, 14 cases were familial, from 8 families, and 2 cases were sporadic. Thus, we had 10 index cases in total. The 10 identified mutations were located in exons 1, 10,11,13,14 and 19 to 23. Four of the identified mutations were not previously reported, these are g.64407delT, g.153236A>T, g.156743delTCTG and g.162078delA. Truncating mutations were found in 12 out the 16 cases, and missense mutations in the remaining 4 cases. There was no correlation between the type of mutation and the number of tumor foci per eye (retinoblastoma or retinomas). Inter and intrafamilial significantly heterogeneous expressivity was observed.

Conclusions: : The present study suggests that the type of inherited mutation is not the determinant factor for the development of retinomas. We postulate that genetic or epigenetic modifier factors might be involved, as well as the nature of the second, non-inherited mutation.

Keywords: retinoblastoma • genetics • gene screening 
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