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Genetic prescreening of a candidate for laser refractive surgery identifies risk for inadequate tissue response: a
Andrea Cusumano1, Hila Roshanravan2, Connie Chao-Shern2
1University of Rome Tor Vergata, Rome, Italy.
Background:
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.
Conclusions:
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.
Insights
Genetic prescreening can identify risks for ectatic corneal diseases before laser eye surgery. This approach enhances patient safety by detecting potential issues missed by standard tests, preventing inadequate surgical responses.
Area of Science:
- Ophthalmology
- Genetics
- Corneal Surgery
Background:
- Conventional eye exams may miss risks for ectatic corneal diseases before refractive surgery.
- Therapeutic uncertainty arises from inadequate response identification.
- Genetic prescreening offers a method to augment preassessment for corneal laser refractive surgery.
Observation:
- A 44-year-old male underwent deoxyribonucleic acid (DNA) sequencing of 75 eye-related genes.
- Standard preoperative tests showed no corneal abnormalities.
- DNA sequencing revealed rare variants in ADGRV1, PTK2, ZNF469, and KRT15 genes.
Findings:
- Identified genetic variants are potential risk factors for inadequate response to corneal laser refractive surgery.
- Subsequent corneal tomography revealed a posterior profile deformity in the left eye.
- Genetic prescreening detected risks not apparent with conventional preoperative testing.
Implications:
- Genetic prescreening can prevent enrollment of at-risk individuals for corneal laser refractive surgery.
- This method addresses diagnostic uncertainty in predicting surgical outcomes.
- Advances in genetic analysis improve patient safety in refractive surgery candidates.
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