ArticleMolecular vision2008
An atypical phenotype of Reis-Bücklers corneal dystrophy caused by the G623D mutation in TGFBI.
Article in Molecular vision, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
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Who cites it
7 citing papers in PubMed, 17 citations in OpenAlex.
- Corneal histomorphology and electron microscopic observation of R124L mutated corneal dystrophy in a relapsed pedigree.International journal of ophthalmology · 2022Article
- Phenotype-genotype correlations in patients with TGFBI-linked corneal dystrophies in Taiwan.Molecular vision · 2012Article
- TGFBI mutation screening and genotype-phenotype correlation in north Indian patients with corneal dystrophies.Molecular vision · 2010Article
- Analysis of TGFBI gene mutations in Chinese patients with corneal dystrophies and review of the literature.Molecular vision · 2010Review
- TGFBI gene mutation analysis in a Chinese pedigree of Reis-Bücklers corneal dystrophy.Molecular vision · 2010Article
- A novel mutation I522N within the TGFBI gene caused lattice corneal dystrophy I.Molecular vision · 2009Article
- Corneal dystrophies.Orphanet journal of rare diseases · 2009Review
Corrections and comments
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Authors and funding
6 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeTo characterize the molecular defects in the TGFBI gene in a Chinese family with an unusual phenotype of Reis-Bücklers corneal dystrophy (RBCD).
methodsThree generations of the family with RBCD were enrolled in the present study. In addition to ophthalmologic examinations, polymerase chain reaction (PCR) amplification and nucleotide sequencing of exons of TGFBI were performed. Exon 14 was also sequenced in 100 healthy controls unrelated to the family for comparison.
resultsThe clinical features of the disease were characterized by geographic opacities in the anterior to mid stroma of the cornea. Molecular genetic analysis revealed a heterozygous point mutation at exon 14 (c.1915 G>A) in all affected members of the family. The unusual opacities involving the anterior to mid-cornea stroma were different from the phenotypic features of families previously reported to have the same genetic change.
conclusionsWe speculate that this disorder is a variant of RBCD. This finding may expand our knowledge about RBCD and facilitate diagnosis of corneal dystrophies associated with atypical clinical features.
Indexed as
Identifiers
18636123PMC2467519W1908730126What OpenQuestion holds
Registered trials
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