A Korean patient with lattice corneal dystrophy type IV with Leu527Arg mutation in the TGFBI gene

Jinsun Kim, Kyung A. Lee, Eung K.weon Kim, Hyung K.eun Lee

Research output: Contribution to journalArticle

3 Citations (Scopus)

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-β-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.

Original languageEnglish
Pages (from-to)83-85
Number of pages3
JournalKorean journal of ophthalmology : KJO
Volume28
Issue number1
DOIs
Publication statusPublished - 2014 Feb 1

All Science Journal Classification (ASJC) codes

  • Medicine(all)

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