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. 2000 Jan;84(1):67–71. doi: 10.1136/bjo.84.1.67

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

C Akimune 1, H Watanabe 1, N Maeda 1, M Okada 1, S Yamamoto 1, A Kiritoshi 1, Y Inoue 1, Y Shimomura 1, Y Tano 1
PMCID: PMC1723238  PMID: 10611102

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, χ2 with 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.



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Figure 1  .

Figure 1  

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Molecular analysis of patients with corneal dystrophy from a heterozygous R124H mutation of βig-h3 gene. The sequence reveals unaffected patients (A) and affected patients (B). G to A transition (CGC to CAC) was found at position 418 in the affected patients.

Figure 2  .

Figure 2  

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Staging of corneal dystrophy. (A) Stage I of the dystrophy is characterised by isolated deposits in an otherwise clear cornea. (B) Stage II is characterised by moderate to abundant deposits and corneal haze.

Figure 3  .

Figure 3  

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Grading of corneal guttata. (A) Mild corneal guttata are characterised by a small number of guttata formations. (B) Severe corneal guttata are characterised by abundant guttata formations.

Figure 4  .

Figure 4  

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Specular microscopic photograph. Severe corneal guttata were observed in the right eye (R) and mild guttata in the left eye (L) of the same 64 year old patient with βig-h3 R124H mutation.

Selected References

These references are in PubMed. This may not be the complete list of references from this article.

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