Classic lattice corneal dystrophy associated with monoclonal gammopathy after exclusion of a TGFBI mutation.
OBJECTIVE
The purpose of this study was to report the association of phenotypic features characteristic of lattice corneal dystrophy (LCD) with a monoclonal gammopathy of undetermined significance (MGUS) after exclusion of a coding region mutation in transforming growth factor beta-induced (TGFBI) gene.


METHODS
Case report.


METHODS
Slit-lamp examination and collection of DNA for TGFBI screening were performed. 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 LCD. 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 MGUS.


CONCLUSIONS
Although the presence of bilateral thin branching lattice lines in the corneal stroma is characteristic of classic LCD, 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 LCD phenotype in the absence of a positive family history.
Kamal
Khairidzan M
KM
Cornea Service, The Jules Stein Eye Institute, David Geffen School of Medicine at UCLA, Los Angeles, CA 90095, USA.
Rayner
Sylvia A
SA
Chen
Michael C
MC
Aldave
Anthony J
AJ
D000368:Aged; D001798:Blood Proteins / Q000032:analysis; D003317:Corneal Dystrophies, Hereditary / Q000235:genetics; D003318:Corneal Opacity / Q000209:etiology* / Q000235:genetics / Q000473:pathology*; D003319:Corneal Stroma / Q000473:pathology*; D004586:Electrophoresis; D005091:Exons; D016326:Extracellular Matrix Proteins / Q000235:genetics; D005820:Genetic Testing; D006801:Humans; D008297:Male; D009154:Mutation; D010265:Paraproteinemias / Q000150:complications* / Q000175:diagnosis; D010641:Phenotype; D020641:Polymorphism, Single Nucleotide; D016212:Transforming Growth Factor beta / Q000235:genetics; D000099222:betaIG-H3 Protein
D001798:Blood Proteins; D016326:Extracellular Matrix Proteins; D016212:Transforming Growth Factor beta; D000099222:betaIG-H3 Protein