Korean J Ophthalmol.  2014 Feb;28(1):83-85. 10.3341/kjo.2014.28.1.83.

A Korean Patient with Lattice Corneal Dystrophy Type IV with Leu527Arg Mutation in the TGFBI Gene

• Kim J
• Lee KA
• Kim EK
• Lee HK

• KMID: 1792097
• DOI: http://doi.org/10.3341/kjo.2014.28.1.83

Abstract

An 87-year-old woman visited our clinic for a scheduled cataract surgery. At the time of preoperative evaluation, slit lamp examination showed lattice-shaped and granular deposits with asymmetrical patterns in the stroma of both corneas. Genomic DNA samples of the patient, amplified by polymerase chain reaction, showed a single nucleotide substitution, c. 1580T>G (p.L527R), in the transforming growth factor-beta-induced TGFBI gene. We also found two additional SNP mutations, c.1620T>C (p.F540F) and c.1678+23G>A, along with the well-known L527R mutation. This is the first report of lattice corneal dystrophy type IV with an L527R mutation outside of Japan, and could challenge the idea that L527R is caused by a mutation from a single Japanese ancestor.

Keyword

Hereditary corneal dystrophies; Transforming growth factor beta

MeSH Terms

Aged, 80 and over
Corneal Dystrophies, Hereditary/diagnosis/*genetics/metabolism
DNA/*genetics
DNA Mutational Analysis
Extracellular Matrix Proteins/*genetics/metabolism
Female
Humans
*Mutation
Pedigree
Polymerase Chain Reaction
Transforming Growth Factor beta/*genetics/metabolism
DNA
Extracellular Matrix Proteins
Transforming Growth Factor beta

Figure

• 

  Fig. 1 Corneal photographs of lattice corneal dystrophy type IV patients. (A) The right eye was the more severely affected eye, displaying nodulolinear amyloid deposits (arrow). (B) The deposits are mainly located in anterior stroma (arrowhead). (C) The left eye showed less linear and macular opacity than the right.

• 

  Fig. 2 Open-frame sequencing of the TGFBI gene from the patient. Direct sequencing of polymerase chain reaction products corresponding to exon 12 of TGFBI. (A) Heterozygous mutation, c.1580T>G (arrow) was detected in the TGFBI gene. (B) Heterozygous c.1620T>C p.Phe540Phe (rs4669) was detected (arrow). (C) Heterozygous c.1678+23G>A (rs2072239) was detected (arrow).

Reference

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