Two patterns of opacity in corneal dystrophy caused by the homozygous BIG-H3 R124H mutation - 03/09/11
, Yasunori Hashida, MD a, Kaoru Tsujikawa, MD a, Motokazu Tsujikawa, MD a, Naoyuki Maeda, MD a, Yoshitsugu Inoue, MD a, Shuji Yamamoto, MD a, Yasuo Tano, MD aAbstract |
PURPOSE: To investigate the opacity pattern in corneas with an Arg124His (R124H) homozygous mutation of the BIG-H3 gene.
METHODS: Slit-lamp examination was performed on eight patients with corneal dystrophy resulting from a genetically confirmed BIG-H3 R124H homozygous mutation. The birthplaces of the patients also were determined.
RESULTS: Slit-lamp examination disclosed two types of opacity patterns in corneas with the BIG-H3 R124H homozygous mutation. Type I (n = 4) is a spot-like opacity present in the anterior stroma in which the lesions are confluent. Type I is the same pattern that previous reports have shown to be caused by the BIG-H3 R124H homozygous mutation. The type II corneal opacity pattern (n = 4) is a reticular opacity in the anterior stroma with round translucent spaces. Type II opacity has not been reported previously in association with any corneal dystrophy. The patients with the type I opacity do not share a common birthplace; however, interestingly, the patients with the type II opacity traced their origin to Tottori prefecture in western Japan.
CONCLUSION: The BIG-H3 homozygous R124H mutation induces the development of two distinct patterns of corneal opacity, the recognition of which can establish an accurate diagnosis of corneal dystrophy caused by the homozygous BIG-H3 R124H mutation independent of genetic analysis. In addition, genetic factors or circumstantial influences other than the gene responsible for the corneal dystrophy may influence the pattern of corneal opacity.
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| ☆ | This study was supported in part by grant-in-aid 09671800 for Scientific Research from the Japanese Ministry of Education, Science, Sports, and Culture and by Osaka Eye Bank Research Fund (H.W.). |
Vol 132 - N° 2
P. 211-216 - août 2001 Retour au numéro
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