April 2011
Volume 52, Issue 14
Free
ARVO Annual Meeting Abstract  |   April 2011
A Novel Tgfbi Gene Mutation, Ala620asp In Korean Patient With Atypical Lattice Type Corneal Dystrophy
Author Affiliations & Notes
  • Chang Rae Rho
    Department of Ophthalmology, Seoul St Mary Hospital, Seoul, Republic of Korea
  • Kyong Jin Cho
    Department of Ophthalmology, Seoul St Mary Hospital, Seoul, Republic of Korea
  • Jee Won Mok
    Department of Ophthalmology, Seoul St Mary Hospital, Seoul, Republic of Korea
  • Choun-Ki Joo
    Department of Ophthalmology, Seoul St Mary Hospital, Seoul, Republic of Korea
  • Footnotes
    Commercial Relationships  Chang Rae Rho, None; Kyong Jin Cho, None; Jee Won Mok, None; Choun-Ki Joo, None
  • Footnotes
    Support  None
Investigative Ophthalmology & Visual Science April 2011, Vol.52, 6665. doi:
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      Chang Rae Rho, Kyong Jin Cho, Jee Won Mok, Choun-Ki Joo; A Novel Tgfbi Gene Mutation, Ala620asp In Korean Patient With Atypical Lattice Type Corneal Dystrophy. Invest. Ophthalmol. Vis. Sci. 2011;52(14):6665.

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Abstract

Purpose: : To identify mutations in the TGFBI gene in a Korean family with atypical lattice type corneal dystrophy (LCD).

Methods: : A complete ophthalmologic examination was performed on the proband and family members. A total of 156 LCD patients were screened, including 10 patients from five families and an 146 sporadic patients, all of Korean ancestry. Mutation screening of the entire coding regions of the TGFBI gene were performed by direct sequencing. One hundred fifty control individuals without corneal disease were selected from the general population.

Results: : We have identified a novel heterozygous mutation, A620D in exon 14 of the TGFBI gene. It was not present in unaffected individuals from control groups. Two heterozygous missense mutations, R124C for LCD type I and L527R for LCD type VI, were also observed.

Conclusions: : This is the first report of a mutation, A620D, found in the TGFBIgene in a Korean family with atypical lattice type corneal dystrophy.

Keywords: genetics • cornea: stroma and keratocytes 
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