May 2008
Volume 49, Issue 13
Free
ARVO Annual Meeting Abstract  |   May 2008
Replication of the Strabismus Susceptibility Locus, STBMS1, but With Dominant Inheritance
Author Affiliations & Notes
  • I. Simmons
    St. James's University Hospital, Leeds, United Kingdom
  • A. Rice
    University of Leeds, Leeds, United Kingdom
  • J. Nsengimana
    University of Leeds, Leeds, United Kingdom
  • C. Toomes
    University of Leeds, Leeds, United Kingdom
  • J. Hoole
    St. James's University Hospital, Leeds, United Kingdom
  • C. E. Willoughby
    Queen's University Belfast, Belfast, United Kingdom
  • B. T. Barrett
    University of Bradford, Bradford, United Kingdom
  • D. B. Elliott
    University of Bradford, Bradford, United Kingdom
  • D. T. Bishop
    University of Leeds, Leeds, United Kingdom
  • C. F. Inglehearn
    University of Leeds, Leeds, United Kingdom
  • Footnotes
    Commercial Relationships  I. Simmons, None; A. Rice, None; J. Nsengimana, None; C. Toomes, None; J. Hoole, None; C.E. Willoughby, None; B.T. Barrett, None; D.B. Elliott, None; D.T. Bishop, None; C.F. Inglehearn, None.
  • Footnotes
    Support  College of Optometrists Research Scholarship and Yorkshire Eye Research [grant numbers 011 and 011B]
Investigative Ophthalmology & Visual Science May 2008, Vol.49, 464. doi:https://doi.org/
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      I. Simmons, A. Rice, J. Nsengimana, C. Toomes, J. Hoole, C. E. Willoughby, B. T. Barrett, D. B. Elliott, D. T. Bishop, C. F. Inglehearn; Replication of the Strabismus Susceptibility Locus, STBMS1, but With Dominant Inheritance. Invest. Ophthalmol. Vis. Sci. 2008;49(13):464. doi: https://doi.org/.

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

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Abstract

Purpose: : Strabismus is a common eye disorder with a prevalence of 1-4%. Comitant strabismus accounts for approximately 75% of all strabismus, yet more is known about the less common, incomitant disorders. For comitant strabismus, only one susceptibility locus [STBMS1] has been identified to date, in one family, on chromosome 7p. To determine the frequency of STBMS1 as a cause of primary nonsyndromic comitant esotropia [PNCE], we have ascertained, sampled and genotyped twelve families with PNCE.

Methods: : Families were recruited within the UK Hospital Eye Service, whereby a child was attending for treatment of PNCE. All consenting members of a family were clinically assessed and DNA was sampled. Chromosome 7 markers were genotyped in all twelve families then further markers were tested at STBMS1 in one linked family. LOD scores were calculated under recessive and dominant models with the programs GENEHUNTER and LINKMAP.

Results: : One family [CA/CL] was linked to STBMS1, three significantly excluded linkage and the remainder were uninformative. Twenty-six members from three generations of the CA/CL pedigree were analysed further, five of which were defined as affected. Two individuals had esotropia with an accommodative element; three had strabismus surgery and appear to have had an ‘infantile-type’ of esotropia. A maximum LOD score of 3.21 was obtained under a dominant mode of inheritance; a recessive model gave a LOD score of 1.2.

Conclusions: : This study confirms that PNCE can result from sequence variants at the STBMS1 locus. However, this locus accounts for only a proportion of cases and other genetic loci remain to be identified. In contrast with the previous reported family, this study suggests dominant rather than recessive inheritance at the STBMS1 locus.

Keywords: genetics • strabismus • linkage analysis 
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