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Lattice corneal dystrophy type IIIA with hyaline component from a novel A620P mutation and distinct surgical treatments.

 Ji Won Jung  ;  Sangah Kim  ;  Eun Min Kang  ;  Taeim Kim  ;  Hyun Soo Cho  ;  Eung Kweon Kim 
 CORNEA, Vol.33(12) : 1324-1331, 2014 
Journal Title
Issue Date
Adult ; Codon/genetics* ; Corneal Dystrophies, Hereditary/genetics* ; Corneal Dystrophies, Hereditary/surgery ; Corneal Transplantation ; DNA Mutational Analysis ; Exons/genetics ; Extracellular Matrix Proteins/genetics* ; Female ; Gene Amplification ; Humans ; Immunoenzyme Techniques ; Keratoplasty, Penetrating ; Male ; Middle Aged ; Mutation* ; Pedigree ; Photorefractive Keratectomy ; Transforming Growth Factor beta/genetics* ; Visual Acuity/physiology ; Substances
PURPOSE: The aim of this study was to report a lattice corneal dystrophy (LCD) family with a novel mutation of A620P in the TGFBI gene, its long-term treatment, follow-up data, and related pathologic findings.
METHODS: A total of 28 family members were clinically examined, and blood samples or buccal epithelial cells were taken for DNA analysis. All exons from the entire TGFBI gene coding region were analyzed for mutations in 3 affected members. Exon 14 was amplified in other family members and in 100 normal Korean persons as control. Corneal tissues from 1 affected family member were examined using light and electron microscopy.
RESULTS: Clinical examination revealed relatively late-onset LCD with asymmetric progression and recurrent corneal erosion. The affected family members have been treated with penetrating keratoplasty, deep lamellar keratoplasty, and phototherapeutic keratectomy for up to 19 years. Screening of the TGFBI gene revealed a novel A620P mutation, which was found in all affected members. The amyloid origin of deposits was confirmed by Congo red and was also partially stained with Masson trichrome. Although there were no electron-dense bodies as in granular dystrophy, transmission electron microscopy demonstrated that the stromal deposits were not homogenous and contained a variety of constituents with different electron densities.
CONCLUSIONS: We present the characteristics and surgical treatment of corneas with a novel A620P mutation in TGFBI showing LCD type IIIA with hyaline component.
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1. College of Medicine (의과대학) > Dept. of Ophthalmology (안과학교실) > 1. Journal Papers
Yonsei Authors
Kim, Sangah(김상아) ORCID logo https://orcid.org/0000-0002-8511-2903
Kim, Eung Kweon(김응권) ORCID logo https://orcid.org/0000-0002-1453-8042
Kim, Tae-Im(김태임) ORCID logo https://orcid.org/0000-0001-6414-3842
Jung, Ji Won(정지원)
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