AvaGen: Resources
Our goal is to provide genetic testing for eyecare professionals as simply as possible. We also want to make it easy to explain the AvaGen test to your patients.
Avellino offers materials and other resources to help support your practice. Review these materials prior to testing and post-test.
If you are an eyecare patient, we invite you to visit our patient section
Brochures
Patient Communication Tools
Forms
Videos
Listen to experts share their views on genetics in ophthalmology, genetics for diagnosis, and more.
Why use a genetic test for keratorefractive surgery patients?—Prof John Marshall
It’s extremely important to have as much diagnostic capacity as possible.
Dr Anthony Aldave on the role of genetics for the diagnosis of corneal dystrophies
Refractive surgery and corneal dystrophy
Dr Anthony Aldave on genetic testing and corneal dystrophies
Dr Anthony Aldave discusses genetic testing in patients with suspected corneal dystrophies.
Professor Andrea Cusumano on genetic testing and corneal dystrophy
Refractive surgery and corneal dystrophy
Identifying earlier Corneal Dystrophies, Julie Schallhorn, U of C, San Francisco
Many patients are unable to provide an accurate family history of corneal dystrophy.
Dr Eli Moses
Dr. Moses explains how he integrates genetic testing into his practice.
White Papers and Clinical Papers
TGFBI Corneal Dystrophy
Prevalence of granular corneal dystrophy Type 2 (Avellino Corneal Dystrophy) in the Korean Population.
Lee JH, Cristol SM, Kim WC.
TGFBI Corneal Dystrophy-Post Refractive
Recurrence of Corneal Dystrophy Resulting from an R124H Big-h3 Mutation After Phototherapeutic Keratectomy.
Inoue T, Watanabe H, Yamamoto S, et al.
A Clinical and Histopathologic Examination of Accelerated TGFBI Deposition After LASIK in Combined Granular-Lattice Corneal Dystrophy.
Aldave A, Sonmez B, Forstot L, et al.
Sands of Sahara after LASIK in Avellino Corneal Dystrophy.
Flavio Mantelli, Alessandro Lambiase, Antonio Di Zazzo, and Stefano Bonini.
Slit-lamp examination shows multiple bilateral (right eye; left eye) crumb-like and lattice-like opacities of the stroma and multiple foci of fine granular infiltrates at the surgical flap interface.
Keratoconus
Familial Case of Keratoconus with Corneal Granular Dystrophy in a Family of Iranian Origin.
Jadidi K, Aliasghar MS, and Morovvati S
Typical granular deposits and corneal topographies are observed in the corneas of the right (A) and left (B) eyes of Case 2 (father).
Association of Keratoconus with Granular Corneal Dystrophy.
Rasik B Vajpayee, MB BS, MS Grant R Snibson, FRACO Hugh R Taylor, MD, FRACO
Figure 1. Slit-lamp photograph of the left eye showing granular corneal opacities.
Figure 2. Corneal topography of the left eye showing marked inferior steepening.
Gene Therapy
5 prevalent TGFBI mutations and associated corneal dystrophy and codon change
Towards personalized allele specific CRISPR gene editing to treat autosomal dominant disorders
Christie K, Courtney D, DeDionsio L, et al.
Gene editing in the context of an increasingly complex genome
Blighe K, DeDionsio L, Christie KA, et al.
