Corneal guttata associated with the corneal dystrophy resulting from a beta ig-h3 R124H mutation

Aims-To investigate the frequency of corneal guttata in patients with a cor neal dystrophy resulting from an Arg124His (R124H) mutation of beta ig-h3 g ene. Methods-Slit lamp examination was performed on 30 eyes with corneal dystrop hy from a genetically confirmed beta ig-h3 R124H mutation and on 50 age mat ched control eyes. The stage of the corneal dystrophy was classified as sta ge 0, I, or II and the degree of guttata was classified as none, mild, or s evere. Specular microscopic examinations were performed to evaluate the mor phology of the corneal endothelium. Results-Slit lamp examination disclosed the presence of corneal guttata in 21 eyes (70%) of the 30 eyes with the corneal dystrophy, but in only one (2 %) of the 50 eyes in the age matched control group (p<0.001, chi(2) with Ya te's correction). Of the 12 eyes with stage I beta ig-h3 R124H corneal dyst rophy, seven had no corneal guttata and five had a mild degree of guttata. Of the 18 eyes with stage II, the degree of guttata was none in two, mild i n nine, and severe in seven. The degree of corneal guttata was significantl y related to the stage of the corneal dystrophy (p<0.0001, Kruskul-Wallis t est ANOVA on ranks). There was no significant differences between eyes with beta ig-h3 R124H corneal dystrophy and normal eyes in cell density, coeffi cient of variation, and cell hexagonality of corneal endothelium. Conclusion-Corneal guttata are one of the characteristics of the corneal dy strophy resulting from beta ig-h3 R124H mutation.