Resource summary

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.

That’s why 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

AvaGen Genetic Test Brochure

Educational support for eyecare health professionals and their staff.

Instructions for use brochure

Step-by-step instructions for administering and shipping the AvaGen test.

AvaGen Patient Brochure

Includes test benefits, methodology, administration steps, and more.

Forms

AvaGen Test Requisition Form (TRF)
AvaGen Sample Report
Universal Test Supplemental Insurance Form(not for use with AvaGen)
Universal Test Medical Necessity Form(not for use with AvaGen)

Videos

Listen to experts share their views on genetics in ophthalmology, genetics for diagnostics, 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 genetic testing and corneal dystrophies

Dr Anthony Aldave discusses genetic testing in patients with suspected corneal dystrophies.


Dr Anthony Aldave on the role of genetics for the diagnosis of corneal dystrophies

Recommendations for genetic testing for inherited eye diseases.


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

Evaluation of TGFBI corneal dystrophy and molecular diagnostic testing.

Chao-Shern C, DeDionisio LA, Jang JH, et al.

Prevalence of transforming growth factor ß–induced gene corneal dystrophies in Chinese refractive surgery candidates.

Song Y, Sun M, Wang N, et al.

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

Exacerbation of Avellino Corneal Dystrophy After LASIK in North America.

Banning C, Kim WC, Randleman B, et al.

Excimer laser exacerbation of Avellino corneal dystrophy.

Lee WB, Himmel KS, Hamilton SM, et al.

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.

Trauma-induced exacerbation of epithelial stromal TGFBI lattice corneal dystrophy.

Nithianandan H, Chao-Shern C, DeDionsio L.

Post-LASIK exacerbation of granular corneal dystrophy type 2 in members of a Chinese family.

Chao-Shern C, Me R, DeDionisio LA.

Avellino Corneal Dystrophy after LASIK.

Jun RM, Tchah H, Kim Tl, et al

Avellino Corneal Dystrophy Worsening after Laser In Situ Keratomileusis: Further Clinicopathologic Observations and Proposed Pathogenesis.

Awwad ST, Di Pascuale MA, Hogan RN, 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.

Prevalence of keratoconus in pediatric patients in Riyadh, Saudi Arabia.

Torres-Netto EA, Al-Otabi WM, Hafezi NL

Age-specific Incidence and Prevalence of Keratoconus: A Nationwide Registration Study.

Godefrooj DA, de Wit GA, Uiterwaal CS, et al.

Insights into keratoconus from a genetic perspective

Burdon KP, Vincent AL.

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.

Genetic Testing

Advanced Sequencing Technologies: Methods and Goals.

Shendure J, Mitra RD, Varma C, Church GM.

Recommendations of the American Academy of Ophthalmology Task Force on Genetic Testing.

Stone EM, Aldave AJ, Drack AV, et al.

Access the Avellino genetic counselor network

Contact Avellino for information on genetic counseling and learn how you can utilize the network to support your patients who need further explanation of their at-risk or positive results.

For the latest updates

For more information

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