Document Detail


The variable expression of keratoconus within monozygotic twins: dundee University Scottish Keratoconus Study (DUSKS).
MedLine Citation:
PMID:  16677846     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
INTRODUCTION: 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. METHOD: Computer video-keratoscopy (CVK) was undertaken was on this family to clarify this apparent discordance. RESULTS: CVK demonstrated the variable expression of the keratoconic phenotype, by identifying evidence of subclinical keratoconus in the 'unaffected' twin. CONCLUSION: 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.
Authors:
K H Weed; C J MacEwen; C N J McGhee
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Publication Detail:
Type:  Case Reports; Journal Article; Research Support, Non-U.S. Gov't; Twin Study     Date:  2006-05-04
Journal Detail:
Title:  Contact lens & anterior eye : the journal of the British Contact Lens Association     Volume:  29     ISSN:  1367-0484     ISO Abbreviation:  Cont Lens Anterior Eye     Publication Date:  2006 Jul 
Date Detail:
Created Date:  2006-07-03     Completed Date:  2006-08-29     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  9712714     Medline TA:  Cont Lens Anterior Eye     Country:  England    
Other Details:
Languages:  eng     Pagination:  123-6     Citation Subset:  IM    
Affiliation:
Ophthalmology Department, Ninewells Hospital and Medical School, Dundee, Scotland DD1 9SY, United Kingdom. k.h.weed@dundee.ac.uk
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MeSH Terms
Descriptor/Qualifier:
Corneal Topography
Diseases in Twins / genetics*
Female
Humans
Keratoconus / genetics*,  pathology
Middle Aged
Pedigree
Twins, Monozygotic*

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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