Abstract：
PURPOSE:To characterize the molecular defect in the TGFBI gene in a Chinese family affected with an atypical lattice corneal dystrophy. DESIGN:Case report and experimental study. METHODS:Molecular genetic analysis was performed on the DNA extracted from peripheral leucocytes from a Chinese family with atypical lattice corneal dystrophy. Fifty normal unrelated subjects of Chinese origin were used as controls. All exons of the TGFBI gene were amplified by polymerase chain reaction and directly sequenced. RESULTS:Bilateral, symmetrical, ridgy round pattern of opacities with uneven surfaces and thin lattice lines were noted in the proband. Analysis of exon 14 revealed a heterozygous T to A transition on codon 625. The mutation was not detected in the unaffected family member and 50 unaffected individuals. CONCLUSIONS:The novel TGFBI gene mutation (V625D) is associated with an early-onset variant of lattice corneal dystrophy. This case highlights the utility of molecular genetic analysis in differentiating corneal dystrophies associated with an atypical phenotype from nondystrophic conditions.
journal_name
Am J Ophthalmoljournal_title
American journal of ophthalmologyauthors
Tian X,Fujiki K,Zhang Y,Murakami A,Li Q,Kanai A,Wang W,Hao Y,Ma Zdoi
10.1016/j.ajo.2007.04.015subject
Has Abstractpub_date
2007-09-01 00:00:00pages
473-5issue
3eissn
0002-9394issn
1879-1891pii
S0002-9394(07)00376-5journal_volume
144pub_type
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journal_title：American journal of ophthalmology
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journal_title：American journal of ophthalmology
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journal_title：American journal of ophthalmology
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journal_title：American journal of ophthalmology
pub_type： 杂志文章
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journal_title：American journal of ophthalmology
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journal_title：American journal of ophthalmology
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