Identification of possible risk variants of familial strabismus using exome sequencing analysis

Joon Yong An, Jae Ho Jung, Leejee Choi, Eric D. Wieben, Brian G. Mohney

Research output: Contribution to journalArticlepeer-review

1 Citation (Scopus)


Purpose: To investigate candidate genes associated with familial strabismus and propose a theory of their interaction in familial strabismus associated with early neurodevelopment. Methods: Eighteen families, including 53 patients diagnosed with strabismus and 34 unaffected family members, were analyzed. All patients with strabismus and available unaffected family members were evaluated using whole exome sequencing. The primary outcome was to identify rare occurring variants among affected individuals and investigate the evidence of their genetic heterogeneity. These results were compared with exome sequencing analysis to build a comprehensive genetic profile of the study families. Results: We observed 60 variants from 58 genes in 53 patients diagnosed with strabismus. We prioritized the most credible risk variants, which showed clear segregation in family members affected by strabismus. As a result, we found risk variants in four genes (FAT3, KCNH2, CELSR1, and TTYH1) in five families, suggesting their role in development of familial strabismus. In other families, there were several rare genetic variants in affected cases, but we did not find clear segregation pattern across family members. Conclusion: Genomic sequencing holds great promise in elucidating the genetic causes of strabismus; further research with larger cohorts or other related approaches are warranted.

Original languageEnglish
Article number75
Pages (from-to)1-9
Number of pages9
Issue number1
Publication statusPublished - 2021 Jan

Bibliographical note

Publisher Copyright:
© 2021 by the authors. Licensee MDPI, Basel, Switzerland.


  • Exome sequencing
  • Familial strabismus
  • Strabismus genes
  • Strabismus genetics
  • Strabismus genomic analyses

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


Dive into the research topics of 'Identification of possible risk variants of familial strabismus using exome sequencing analysis'. Together they form a unique fingerprint.

Cite this