The variable expression of keratoconus within monozygotic twins: Dundee University Scottish Keratoconus Study (DUSKS)

As part of a longitudinal observational prospective study (Dundee University Scottish Keratoconus Study, DUSKS) a caucasian female subject was identified with keratoconus affecting both corneas. Of interest was that the subject's mother was a monozygotic twin, however, the mother was reportedly...

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Bibliographic Details
Published in:Contact lens & anterior eye 2006-07, Vol.29 (3), p.123-126
Main Authors: Weed, K.H., MacEwen, C.J., McGhee, C.N.J.
Format: Article
Language:English
Subjects:
Corneal Topography
Diseases in Twins - genetics
Female
Humans
Keratoconus
Keratoconus - genetics
Keratoconus - pathology
Middle Aged
Monozygotic twins
Pedigree
Twins, Monozygotic
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Summary:As part of a longitudinal observational prospective study (Dundee University Scottish Keratoconus Study, DUSKS) a caucasian female subject was identified with keratoconus affecting both corneas. Of interest was that the subject's mother was a monozygotic twin, however, the mother was reportedly unaffected by keratoconus, although her sister (the subject's aunt) had been diagnosed with keratoconus. Computer video-keratoscopy (CVK) was undertaken was on this family to clarify this apparent discordance. CVK demonstrated the variable expression of the keratoconic phenotype, by identifying evidence of subclinical keratoconus in the ‘unaffected’ twin. So far only one set of monozygotic twins with keratoconus have been reported within the UK, this paper reports a second. Since CVK has been available the majority agree on concordance of keratoconus expression but not all, including this study. If monozygotic twin studies demonstrate heterogeneity of keratoconus this may at least explain the contradictory data that exists within the literature and why the inheritance pattern of keratoconus is still unclear in 2005.
ISSN:1367-0484
1476-5411
DOI:10.1016/j.clae.2006.03.003