Table 1 This table ranks the five most common mutations within reported cases (Supplementary Material) from highest to lowest. In addition, it lists the case numbers from high to low for the six additional mutations
From: Evaluation of TGFBI corneal dystrophy and molecular diagnostic testing
Mutations | Reported case numbers |
|---|---|
Five most common mutations In the current genetic test panel | |
R124C Lattice Corneal Dystrophy type 1 | 372 |
R555W Granular Corneal Dystrophy type 1 | 338 |
R124H Granular Corneal Dystrophy type 2 | 325 |
R124L Reis-Buckler corneal dystrophy | 110 |
R555Q Thiel-Behnke corneal dystrophy | 75 |
Six additional mutations In the expended test panel | |
H626R Lattice Corneal Dystrophy subtype I/IIIA | 117 |
A546D Variant Lattice Corneal Dystrophy | 48 |
H572R Lattice Corneal Dystrophy subtype 1 | 34 |
G623D Variant Reis-Buckler Corneal Dystrophy | 26 |
R124S Subtype Granular Corneal Dystrophy type 1 | 18 |
M502V Variant Corneal Dystrophy and Variant Thiel-Behnke Corneal Dystrophy | 4 |
