Genetic prescreening of a candidate for laser refractive surgery identifies risk for inadequate tissue response: a case report

Andrea Cusumano, Hila Roshanravan, Connie Chao-Shern, Jacopo Sebastiani, Jung Hee Levialdi Ghiron, Larry DeDionisio, Tara Moore

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Inadequate response to corneal laser refractive surgery, e.g., ectatic corneal diseases, may not be identified by conventional examinations, hence creating therapeutic uncertainty. Herein we demonstrate the application of genetic prescreening to augment preassessment for corneal laser refractive surgery and highlight the ability to prevent the possibility of enrolling a subject at risk for developing ectatic corneal diseases.

Case presentation
Preoperative tests were performed alongside deoxyribonucleic acid (DNA) sequencing of 75 genes specific to the structure and health of the eye of a 44-year-old Caucasian male candidate for corneal laser refractive surgery. The patient had no medical, family, or psychosocial history, nor symptoms that could lead to suspect any corneal abnormalities, and conventional preoperative tests confirmed that no corneal abnormalities were present. The sequencing results uncovered rare DNA variants within the ADGRV1, PTK2, ZNF469, and KRT15 genes. These variants were considered potential risk factors for inadequate response in the patient post corneal laser refractive surgery. Subsequent reevaluation with three different last-generation corneal tomographers identified in the left eye a “warning” for a deformity of the posterior profile of the cornea.

Genetic prescreening identifies potential risk of inadequate response to corneal laser refractive surgery where current technologies in use may lead to a hazardous predictive diagnostic uncertainty.
Original languageEnglish
Article number207
Pages (from-to)1-8
Number of pages8
JournalJournal of Medical Case Reports
Issue number1
Early online date16 May 2022
Publication statusPublished online - 16 May 2022

Bibliographical note

Funding Information:

Publisher Copyright:
© 2022, The Author(s).


  • Refractive Surgery
  • Genetic Testing
  • Corneal Ectatic Disease
  • Cornea
  • Humans
  • Corneal Diseases
  • Dilatation, Pathologic
  • Corneal Topography
  • Lasers
  • Adult
  • Male
  • Refractive Surgical Procedures
  • Corneal ectatic disease
  • Refractive surgery
  • Genetic testing


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