Corneal dystrophies, a contraindication for refractive surgery on a global scale
28/05/2019
28/05/2019
To date, about 70 mutations linked to the TGFBI gene have been described that cause corneal dystrophies of the epithelium and corneal stroma, the Avellino genetic test detects the five most common types, equal to 75% of the total.
A recent study has collected data from 184 publications on the Human Gene Mutation Database (HGMD) and PubMed from 34 countries reporting 1600 cases of corneal dystrophies comparing them with the 600,000 samples analyzed with the Avellino genetic test without finding any difference in the mutation frequency in different populations or geographical locations, characterizing it as a global condition. (https://www.researchgate.net/publication/331070801_Evaluation_of_TGFBI_corneal_dystrophy_and_molecular_diagnostic_testing)
The Avellino genetic test detects corneal dystrophies of type I and II (or Avellino), type I Lattice, Reis-Buckler and Thiel-Behnke, present in the world population with a prevalence from 1: 500 to 1: 1000, a pathology therefore two to four times more widespread than keratoconus (https://www.sedesoi.com/vademecum3.php).
The medical literature has also shown a strong correlation between PRK or LASIK procedures and a serious worsening of symptoms, even after many years.
In subjects heterozygous for this mutation the signs are absent or difficult to diagnose, the Avellino test has instead proved to be sensitive and 100% specific: this means that in clinical trials a false positive or a false negative has never been detected.
For this reason the Italian Ophthalmological Society and the Italian Society of Legal Ophthalmology have expressed themselves in advising the execution of the test both for medical-legal purposes and to allow the surgeon to evaluate alternative interventions, in addition to representing the opportunity to offer his patients a safer refractive surgery.
Contact our product specialists for more information.
A recent study has collected data from 184 publications on the Human Gene Mutation Database (HGMD) and PubMed from 34 countries reporting 1600 cases of corneal dystrophies comparing them with the 600,000 samples analyzed with the Avellino genetic test without finding any difference in the mutation frequency in different populations or geographical locations, characterizing it as a global condition. (https://www.researchgate.net/publication/331070801_Evaluation_of_TGFBI_corneal_dystrophy_and_molecular_diagnostic_testing)
The Avellino genetic test detects corneal dystrophies of type I and II (or Avellino), type I Lattice, Reis-Buckler and Thiel-Behnke, present in the world population with a prevalence from 1: 500 to 1: 1000, a pathology therefore two to four times more widespread than keratoconus (https://www.sedesoi.com/vademecum3.php).
The medical literature has also shown a strong correlation between PRK or LASIK procedures and a serious worsening of symptoms, even after many years.
In subjects heterozygous for this mutation the signs are absent or difficult to diagnose, the Avellino test has instead proved to be sensitive and 100% specific: this means that in clinical trials a false positive or a false negative has never been detected.
For this reason the Italian Ophthalmological Society and the Italian Society of Legal Ophthalmology have expressed themselves in advising the execution of the test both for medical-legal purposes and to allow the surgeon to evaluate alternative interventions, in addition to representing the opportunity to offer his patients a safer refractive surgery.
Contact our product specialists for more information.
Dott. Stefano De Angelis
Product Specialist & Service Engineer
Oftalmedica