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K. Mohd Kamal, S. Rayner, V. Yellore, A. Aldave; Classic Lattice Corneal Dystrophy Associated With Monoclonal Gammopathy Following Exclusion of a TGFBI Mutation. Invest. Ophthalmol. Vis. Sci. 2008;49(13):1008.
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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.
A 65-year-old man with a history of monoclonal gammopathy demonstrated bilateral, linear, branching corneal stromal opacities characteristic for classic lattice corneal dystrophy. The patient denied a family history of a corneal dystrophy. DNA was collected for screening of TGFBI to rule out classic and variant 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 (Leu217Leu; rs 1442), c.1028 A>G (Val327Val; rs 1054124), c.1416 C>T (Leu471Leu; rs 1133170) and c.1667 T>C (Phe540Phe; rs 4669). Immunofixation serum protein electrophoresis revealed an M spike of 1.3 with the presence of IgG and IgM monoclonal gammopathy. Quantitative immunoglobulin was noted to be less than 3g/dl and the urine test was negative for Bence Jones protein
The characteristic phenotype associated with classic lattice corneal dystrophy is not always associated with a TGFBI mutation. The exclusion of a TGFBI dystrophy in the case we report demonstrates the utility of molecular genetic analysis in confirming or refuting presumptive clinical diagnoses. Additionally, it suggests that the presumed corneal stromal amyloid deposition represents a secondary amyloidosis, associated with a monoclonal gammopathy, rather than a primary localized dystrophic amyloidosis.
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