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Original Article
Corneal guttata associated with the corneal dystrophy resulting from a βig-h3 R124H mutation
  1. Chika Akimune,
  2. Hitoshi Watanabe,
  3. Naoyuki Maeda,
  4. Masaki Okada,
  5. Shuji Yamamoto,
  6. Akira Kiritoshi,
  7. Yoshitsugu Inoue,
  8. Yoshikazu Shimomura,
  9. Yasuo Tano
  1. Department of Ophthalmology, Osaka University Medical School, Osaka, Japan
  1. Hitoshi Watanabe, MD, Department of Ophthalmology, Osaka University Medical School, E-7, 2-2 Yamadaoka, Suita, 565, Japan

Abstract

AIMS To investigate the frequency of corneal guttata in patients with a corneal dystrophy resulting from an Arg124His (R124H) mutation of βig-h3 gene.

METHODS Slit lamp examination was performed on 30 eyes with corneal dystrophy from a genetically confirmed βig-h3 R124H mutation and on 50 age matched control eyes. The stage of the corneal dystrophy was classified as stage 0, I, or II and the degree of guttata was classified as none, mild, or severe. Specular microscopic examinations were performed to evaluate the morphology 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, χ2with Yates's correction). Of the 12 eyes with stage I βig-h3 R124H corneal dystrophy, 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 in nine, and severe in seven. The degree of corneal guttata was significantly related to the stage of the corneal dystrophy (p<0.0001, Kruskul–Wallis test ANOVA on ranks). There was no significant differences between eyes with βig-h3 R124H corneal dystrophy and normal eyes in cell density, coefficient of variation, and cell hexagonality of corneal endothelium.

CONCLUSION Corneal guttata are one of the characteristics of the corneal dystrophy resulting from βig-h3 R124H mutation.

  • corneal guttata
  • corneal dystrophy
  • gene mutation

https://doi.org/10.1136/bjo.84.1.67

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