Two patterns of opacity in corneal dystrophy caused by the homozygous BIG-H3 R124H mutation.
Am J Ophthalmol
; 132(2): 211-6, 2001 Aug.
Article
em En
| MEDLINE
| ID: mdl-11476681
ABSTRACT
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 birthplace of each patient also was 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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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Distrofias Hereditárias da Córnea
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Proteínas da Matriz Extracelular
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Fator de Crescimento Transformador beta
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Mutação Puntual
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Córnea
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Opacidade da Córnea
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Proteínas de Neoplasias
Limite:
Adult
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Female
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Humans
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Male
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Middle aged
Idioma:
En
Ano de publicação:
2001
Tipo de documento:
Article