Corneal dystrophies represent a strong contraindication to refractive surgery, unfortunately in some cases they are difficult if not impossible to diagnose: today there is an effective genetic test in 100% of cases.
Approximately 70 mutations related to the TGFBI gene causing corneal epithelial and corneal stromal dystrophies have been described to date, the genetic test Avellino detects the five most widespread types equal to 75% of the total.
A recent study collected data from 184 Human Gene Mutation Database (HGMD) and PubMed publications from 34 countries reporting 1600 cases of corneal dystrophies compared to 600,000 samples analyzed with genetic testing Avellino without finding any difference in mutation frequency in different populations or geographic locations, characterizing it as a global condition.(https://www.researchgate.net/publication/331070801_Evaluation_of_TGFBI_corneal_dystrophy_and_molecular_diagnostic_testing)
The genetic test Avellino detects the corneal dystrophies of Granular type I and II (or Avellino), Latex type I, Reis-Buckler and Thiel-Behnke, present in the world population with a prevalence of 1:500 to 1:1000, therefore a two-year pathology four times more common than keratoconus (https://www.sedesoi.com/vademecum3.php).
The medical literature has also demonstrated a strong correlation between PRK or LASIK interventions and a serious worsening of symptoms, even after years.
In subjects heterozygous for this mutation the signs are absent or difficult to diagnose, the test Avellino instead, it proved to be sensitive and specific to 100%: this means that a false positive or false negative was never detected in clinical trials.
For this reason the Italian Ophthalmological Society and the Italian Society of Legal Ophthalmology have expressed themselves in recommending the execution of the test both for medico-legal purposes and to allow the surgeon to evaluate alternative interventions, as well as representing the opportunity to offer safer refractive surgery to their patients.
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