Classic lattice corneal dystrophy associated with monoclonal gammopathy following exclusion of a TGFBI mutation
Purpose To report the association of phenotypic features characteristic of lattice corneal dystrophy with a monoclonal gammopathy of undetermined significance following exclusion of a coding region mutation in TGFBI. Design Case report Methods Slit lamp examination was performed, as well as...
| Main Authors: | , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Lippincot William @ Wilkins
2009
|
| Subjects: | |
| Online Access: | http://irep.iium.edu.my/408/ http://irep.iium.edu.my/408/ http://irep.iium.edu.my/408/ http://irep.iium.edu.my/408/1/Classic_lattice_corneal_dystrophy_associated_%281%29.mht |
| Summary: | Purpose
To report the association of phenotypic features characteristic of lattice corneal dystrophy with a monoclonal gammopathy of undetermined significance following exclusion of a coding region mutation in TGFBI.
Design
Case report
Methods
Slit lamp examination was performed, as well as collection of DNA for TGFBI screening. A systemic evaluation was also performed to evaluate for conditions associated with systemic amyloidosis.
Results
A 65-year-old man demonstrated bilateral, linear, branching corneal stromal opacities characteristic of classic lattice corneal dystrophy. No mutations were found in any of the 17 exons of TGFBI, or in the intron/exon boundary regions. Four previously described single nucleotide polymorphisms were identified: c.698C>G (p.Leu217Leu; rs1442), c.1028A>G (p.Val327Val; rs1054124), c.1416C>T (p.Leu472Leu; rs1133170) and c.1667T>C (p.Phe540Phe; rs4669). Serum protein electrophoresis revealed the presence of a monoclonal spike and based on the results of additional investigations, the patient was diagnosed with monoclonal gammopathy of undetermined significance (MGUS).
Conclusions
While the presence of bilateral, thin, branching lattice lines in the corneal stroma is characteristic of classic lattice corneal dystrophy, this distinctive phenotype may not be associated with a TGFBI coding region mutation, but instead with a myeloproliferative disorder such as MGUS. Therefore, appropriate genetic and serologic testing should be performed in patients with a late-onset lattice corneal dystrophy phenotype in the absence of a positive family history.
|
|---|