April 2011
Volume 52, Issue 14
ARVO Annual Meeting Abstract  |   April 2011
Phenotype and Hereditability of Keratoconus in Twins
Author Affiliations & Notes
  • Petra Liskova
    Lab of Biology and Pathology of the Eye, Charles University, First Faculty of Medicine, Prague, Czech Republic
    Institute of Ophthalmology, UCL, London, United Kingdom
  • Colin E. Willoughby
    Centre for Vision and Vascular Science, Queen's Univerity Belfast, Belfast, United Kingdom
  • Sonia George
    The Royal Victoria Hospital, Belfast, United Kingdom
  • Stephen J. Tuft
    Moorfields Eye Hospital NHS Foundation Trust, London, United Kingdom
  • Footnotes
    Commercial Relationships  Petra Liskova, None; Colin E. Willoughby, None; Sonia George, None; Stephen J. Tuft, None
  • Footnotes
    Support  The Special Trustees of Moorfields Eye Hospital and the research project of the Ministry of Education, Youth and Sports of the Czech Republic MSM0021620806.
Investigative Ophthalmology & Visual Science April 2011, Vol.52, 1094. doi:
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      Petra Liskova, Colin E. Willoughby, Sonia George, Stephen J. Tuft; Phenotype and Hereditability of Keratoconus in Twins. Invest. Ophthalmol. Vis. Sci. 2011;52(14):1094.

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

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Purpose: : To describe the phenotype and hereditability of 16 sets of twins with keratoconus.

Methods: : Twins and available first-degree relatives were examined as part of a study into familial keratoconus. Zygosity was established by genotyping of 16 forensic microsatellite markers in 14 twin sets. In one pair the other twin was unavailable and in one pair genotyping was not performed as the sex was opposite.

Results: : In total, including the two pairs that were not genotyped, 5 pairs were dizygotic (DZ) and 11 monozygotic (MZ). All but one pair of DZ twins were concordant for keratoconus but two pairs exhibited major differences in age of onset, severity, and progression of the disease. All 11 MZ twins were concordant for keratoconus and 9 of these pairs had a similar age of onset and disease severity. In four of the families with DZ twins other relatives also had keratoconus, but only two families with MZ twins had another relative affected.

Conclusions: : Greater phenotype concordance in MZ than DZ twins supports a major genetic contribution towards the pathogenesis of keratoconus.

Keywords: keratoconus • genetics • topography 

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