Evaluation of TGFBI corneal dystrophy and molecular diagnostic testing

Connie Chao-Shern, Lawrence Dedionisio, Jun-Heok Jang, Clara C. Chan, Vance Thompson, Kathleen Christie, M. Andrew Nesbit, Tara C. B. Moore

Research output: Contribution to journalArticlepeer-review


To date, 70 different TGFBI mutations that cause epithelial-stromal corneal dystrophies have been described. At present one commercially available test examines for the fi ve most common of these mutations: R124H, R124C, R124L, R555W, and R555Q. To expand the capability of identifying the causative mutation in the remaining cases, 57 mutations would need to be added. The aim of this study was to obtain a better understanding of the worldwide distribution and population differences of TGFBI mutations and to assess which mutations could be included or excluded from any potential assay. A total of 184 published papers in Human Gene Mutation Database (HGMD) and PubMed from 34 countries worldwide reporting over 1600 corneal dystrophy cases were reviewed. Global data from 600,000 samples using the commercially available test were
analyzed. Case studies by University College of London (UCL), Moorfi eld’ s Corneal Dystrophy Study data and 19 samples from patients with clinical abnormality or uncertainty for which the current test detected no mutation were used to predict an achievable detection rate. Data from the literature search showed no difference in the spectrum and frequency of each mutation in different populations or geographical locations. According to our analysis, an increase to the worldwide detection rate in all populations from 75 to 90% could be achieved by the addition of six mutations— H626R, A546D, H572R, G623D, R124S, and M502V— to the currently available test and that may be benefi cial for LASIK pre-screening worldwide.
Original languageEnglish
Publication statusPublished (in print/issue) - 29 Dec 2018


  • Corneal dystrophy
  • mutation
  • Molecular diagnostic testing


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