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

DC FieldValueLanguage
dc.contributor.author김응권-
dc.contributor.author김태임-
dc.contributor.author정지원-
dc.contributor.author김상아-
dc.date.accessioned2015-12-28T10:53:14Z-
dc.date.available2015-12-28T10:53:14Z-
dc.date.issued2014-
dc.identifier.issn0277-3740-
dc.identifier.urihttps://ir.ymlib.yonsei.ac.kr/handle/22282913/138238-
dc.description.abstractPURPOSE: 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.-
dc.description.statementOfResponsibilityopen-
dc.relation.isPartOfCORNEA-
dc.rightsCC BY-NC-ND 2.0 KR-
dc.rights.urihttps://creativecommons.org/licenses/by-nc-nd/2.0/kr/-
dc.subject.MESHAdult-
dc.subject.MESHCodon/genetics*-
dc.subject.MESHCorneal Dystrophies, Hereditary/genetics*-
dc.subject.MESHCorneal Dystrophies, Hereditary/surgery-
dc.subject.MESHCorneal Transplantation-
dc.subject.MESHDNA Mutational Analysis-
dc.subject.MESHExons/genetics-
dc.subject.MESHExtracellular Matrix Proteins/genetics*-
dc.subject.MESHFemale-
dc.subject.MESHGene Amplification-
dc.subject.MESHHumans-
dc.subject.MESHImmunoenzyme Techniques-
dc.subject.MESHKeratoplasty, Penetrating-
dc.subject.MESHMale-
dc.subject.MESHMiddle Aged-
dc.subject.MESHMutation*-
dc.subject.MESHPedigree-
dc.subject.MESHPhotorefractive Keratectomy-
dc.subject.MESHTransforming Growth Factor beta/genetics*-
dc.subject.MESHVisual Acuity/physiology-
dc.subject.MESHSubstances-
dc.titleLattice corneal dystrophy type IIIA with hyaline component from a novel A620P mutation and distinct surgical treatments.-
dc.typeArticle-
dc.contributor.collegeCollege of Medicine (의과대학)-
dc.contributor.departmentDept. of Ophthalmology (안과학)-
dc.contributor.googleauthorJi Won Jung-
dc.contributor.googleauthorSangah Kim-
dc.contributor.googleauthorEun Min Kang-
dc.contributor.googleauthorTaeim Kim-
dc.contributor.googleauthorHyun Soo Cho-
dc.contributor.googleauthorEung Kweon Kim-
dc.identifier.doi10.1097/ICO.0000000000000281-
dc.admin.authorfalse-
dc.admin.mappingfalse-
dc.contributor.localIdA00831-
dc.contributor.localIdA01080-
dc.contributor.localIdA03736-
dc.relation.journalcodeJ00648-
dc.identifier.eissn1536-4798-
dc.identifier.pmid25321938-
dc.identifier.urlhttp://ovidsp.ovid.com/ovidweb.cgi?T=JS&CSC=Y&NEWS=N&PAGE=fulltext&AN=00003226-201412000-00015&LSLINK=80&D=ovft-
dc.contributor.alternativeNameKim, Eung Kweon-
dc.contributor.alternativeNameKim, Tae Im-
dc.contributor.alternativeNameJung, Ji Won-
dc.contributor.affiliatedAuthorKim, Eung Kweon-
dc.contributor.affiliatedAuthorKim, Tae Im-
dc.contributor.affiliatedAuthorJung, Ji Won-
dc.rights.accessRightsfree-
dc.citation.volume33-
dc.citation.number12-
dc.citation.startPage1324-
dc.citation.endPage1331-
dc.identifier.bibliographicCitationCORNEA, Vol.33(12) : 1324-1331, 2014-
Appears in Collections:
1. College of Medicine (의과대학) > Dept. of Ophthalmology (안과학교실) > 1. Journal Papers

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