Classic lattice corneal dystrophy associated with monoclonal gammopathy following exclusion of a TGFBI mutation

Mohd. Kamal, Khairidzan and Rayner, Sylvia A. and Chen, Michael C. and Aldave, Anthony J. (2009) Classic lattice corneal dystrophy associated with monoclonal gammopathy following exclusion of a TGFBI mutation. Cornea, 28 (1). pp. 97-98. ISSN 1536-4798

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Abstract

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.

Item Type:	Article (Journal)
Additional Information:	3389/408
Uncontrolled Keywords:	classic lattice corneal dystrophy
Subjects:	R Medicine > RE Ophthalmology
Kulliyyahs/Centres/Divisions/Institutes (Can select more than one option. Press CONTROL button):	Kulliyyah of Medicine
Depositing User:	Mrs. Wan Salwati Wan Salleh
Date Deposited:	16 Jun 2011 08:34
Last Modified:	07 Feb 2012 18:33
URI:	http://irep.iium.edu.my/id/eprint/408

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