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

Ji Won Jung, Sang Ah Kim, Eun Min Kang, Tae-im Kim, Hyun Soo Cho, Eungkweon Kim

Research output: Contribution to journalArticle

7 Citations (Scopus)

Abstract

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.

Original languageEnglish
Pages (from-to)1324-1331
Number of pages8
JournalCornea
Volume33
Issue number12
DOIs
Publication statusPublished - 2014 Jan 1

Fingerprint

Hyalin
Mutation
Exons
Electrons
Genes
Therapeutics
Congo Red
Penetrating Keratoplasty
Corneal Transplantation
Cheek
Amyloid Plaques
Transmission Electron Microscopy
Cornea
Electron Microscopy
Epithelial Cells
Lattice Type IIIA Corneal Dystrophy
Light
DNA

All Science Journal Classification (ASJC) codes

  • Ophthalmology

Cite this

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title = "Lattice corneal dystrophy type IIIA with hyaline component from a novel A620P mutation and distinct surgical treatments",
abstract = "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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Lattice corneal dystrophy type IIIA with hyaline component from a novel A620P mutation and distinct surgical treatments. / Jung, Ji Won; Kim, Sang Ah; Kang, Eun Min; Kim, Tae-im; Cho, Hyun Soo; Kim, Eungkweon.

In: Cornea, Vol. 33, No. 12, 01.01.2014, p. 1324-1331.

Research output: Contribution to journalArticle

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T1 - Lattice corneal dystrophy type IIIA with hyaline component from a novel A620P mutation and distinct surgical treatments

AU - Jung, Ji Won

AU - Kim, Sang Ah

AU - Kang, Eun Min

AU - Kim, Tae-im

AU - Cho, Hyun Soo

AU - Kim, Eungkweon

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N2 - 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.

AB - 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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