Genetic analysis assists diagnosis of clinical systemic disease in children with excessive hyperopia

BMC Pediatr. 2022 May 24;22(1):305. doi: 10.1186/s12887-021-02992-7.


Background: A thorough examination (especially those including visual functional evaluation) is very important in children's eye-development during clinical practice, when they encountered with unusual excessive hyperopia especially accompanied with other possible complications. Genetic testing would be beneficial for early differential diagnosis as blood sampling is more convenient than all other structural imaging capture tests or functional tests which need children to cooperate well. Thus genetic testing helps us to filter other possible multi-systemic diseases in children patients with eye disorder.

Case presentation: A 3-year-old and an 8-year-old boy, both Chinese children clinically manifested as bilateral excessive hyperopia (≥+10.00), severe amblyopia and exotropia, have been genetically diagnosed as Senior-Loken syndrome-5 (SLSN5) and isolated posterior microphthalmos (MCOP6), respectively.

Conclusions: This report demonstrates the importance of genetic diagnosis before a clinical consult. When children are too young to cooperate with examinations, genetic testing is valuable for predicting other systemic diseases and eye-related development and for implementing early interventions for the disease.

Keywords: Excessive hyperopia; Exotropia; Genetic analysis; IQCB1; MCOP6; PRSS56; SLSN5.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Child
  • Exotropia*
  • Genetic Testing
  • Humans
  • Hyperopia* / diagnosis
  • Hyperopia* / genetics
  • Male
  • Microphthalmos* / genetics