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Originally published In Press as doi:10.1167/iovs.07-1631 on February 14, 2009
 (Investigative Ophthalmology and Visual Science. 2009;50:3210-3217.)
© 2009 by The Association for Research in Vision and Ophthalmology, Inc.
doi:10.1167/iovs.07-1631
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Replication of the Recessive STBMS1 Locus but with Dominant Inheritance

Aine Rice,1,2 Jérémie Nsengimana,1 Ian G. Simmons,2 Carmel Toomes,1 Janice Hoole,2 Colin E. Willoughby,3 Frances Cassidy,2 Grange A. Williams,1 Nick D. George,4 Eamonn Sheridan,5 Terri L. Young,6 Tim I. Hunter,2 Brendan T. Barrett,7 David B. Elliott,7 D. Tim Bishop,1 and Chris F. Inglehearn1

1From the Section of Ophthalmology and Neuroscience, Leeds Institute of Molecular Medicine, University of Leeds, Leeds, United Kingdom; 2Eye Department and 5Clinical Genetics, St. James’s University Hospital, Leeds, United Kingdom; 3Centre for Vision Science, Queen’s University Belfast, Belfast, United Kingdom; 4Ninewells Hospital, Dundee, United Kingdom; 6Department of Ophthalmology, Duke University Medical Center, Durham, North Carolina; and 7Optometry Department, University of Bradford, Bradford, United Kingdom.

PURPOSE. Strabismus is a common eye disorder with a prevalence of 1% to 4%. Comitant strabismus accounts for approximately 75% of all strabismus, yet more is known about the less common incomitant disorders. Comitant strabismus is at least partly inherited, but only one recessive genetic susceptibility locus, on chromosome 7p, has been identified in one family. The purpose of this study was to determine the frequency of STBMS1 as a cause of primary nonsyndromic comitant esotropia (PNCE).

METHODS. Twelve families were recruited within the UK Hospital Eye Service as children attended for treatment of PNCE. All consenting persons were clinically assessed, and DNA was sampled. Chromosome 7 microsatellite markers were genotyped in all 12 families, and LOD scores were calculated under recessive and dominant models.

RESULTS. One family was linked to STBMS1; in three, linkage was significantly excluded; and the remainder were uninformative. Twenty-six members from three generations of the linked family were analyzed further. Five family members were defined as affected; two had esotropia with an accommodative element; and three underwent strabismus surgery and appeared to have had an infantile/early-onset esotropia. A maximum LOD score of 3.21 was obtained under a dominant mode of inheritance; a recessive model gave an LOD score of 1.2.

CONCLUSIONS. This study confirms that PNCE can result from sequence variants in an unknown gene 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 previously reported family, the pedigree described in this study is consistent with dominant rather than recessive inheritance at the STBMS1 locus.






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