Genetic testing may improve patient screening for refractive surgery
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KOLOA, Hawaii — Genetic testing can identify loci and genes for inherited eye diseases and can help improve screening processes to identify patients who are good candidates for refractive surgery, a speaker said here.
“A new revolution in corneal diagnostics is here. We can now improve our outcomes by looking at genes, and this is the first step to a future of identifying and treating patients with certain corneal diseases,” Sonia H. Yoo, MD, said at Hawaiian Eye 2020.
Corneal refractive surgeons commonly deal with inherited eye diseases, such as refractive errors and myopia and hyperopia, which can occur together in families. Successfully identifying genes responsible for these inherited eye diseases can improve candidate screening for refractive surgeries, Yoo said.
She said certain genetic tests now have 100% specificity and 100% sensitivity to screen for genetic mutations in the TGFBI gene, which can be responsible for five types of corneal dystrophies. The mutations can lead to unpredictable responses after PRK and LASIK and are a contraindication for refractive surgery.
Additionally, DNA-based tests can currently detect five types of genetic mutation that result in corneal dystrophy. Consumer DNA tests, such as 23andMe, do not test for corneal dystrophy risk, she said.
Patients who have unexplained stromal opacities, are younger than 40 years of age, have a family history involving the TGFBI gene, corneal dystrophy or Far East Asian ancestry, or have a family history of corneal transplants for unspecified reasons are good candidates for DNA testing, Yoo said.
Yoo said appropriate candidates in her practice will undergo genomic DNA testing with a next generation sequencing analysis that primarily targets the coding regions of 75 genes responsible for structure and function in the eye, specifically in the cornea.
“We can then see if there is a mutation found for corneal dystrophy or keratoconus,” Yoo said.
Just having the gene does not mean a patient will develop the disease. For patients who may be borderline keratoconus candidates based on conventional screening, genetic testing may help increase specificity and sensitivity to determine who is at risk for post-LASIK ectasia, she said. – by Robert Linnehan
Reference:
Yoo SH. Genetic testing for keratoconus and other corneal diseases. Presented at: Hawaiian Eye 2020; Jan. 18-24, 2020; Koloa, Hawaii.
Disclosure: Yoo reports she received grant support from Avellino Labs.