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Br J Ophthalmol 84:583-585 doi:10.1136/bjo.84.6.583
  • Original Article
    • Clinical science

Corneal amyloidosis caused by Leu518Pro mutation of βig-h3 gene

Table 1

Phenotypes of corneal dystrophies caused by the βig-h3 mutations

R124C, L518P lattice corneal dystrophy type I
P501T lattice corneal dystrophy type IIIA
N622H, H626R late onset lattice corneal dystrophy
L527R lattice corneal dystrophy with deep stromal opacities
R124S, R555W granular corneal dystrophy (Groenouw type I)
R124H Avellino corneal dystrophy
R124L, R555Q Reis-Bückers dystrophy

  • The phenotypes of various lattice corneal dystrophies are described according to the descriptions of original articles.

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