Lattice corneal dystrophy type I without typical lattice lines: role of mutational analysis
To describe a Japanese patient with lattice corneal dystrophy type I (LCD I) who lacked the typical lattice lines. Interventional case report. A complete ophthalmologic examination was performed on a 54-year-old woman, and the TGFBI gene was analyzed by direct genomic sequencing. The patient had dif...
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| Veröffentlicht in: | American journal of ophthalmology 2004-03, Vol.137 (3), p.586-588 |
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| container_title | American journal of ophthalmology |
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| creator | Yoshida, Shigeo Yoshida, Ayako Nakao, Shintaro Emori, Aki Nakamura, Takao Fujisawa, Kimihiko Kumano, Yuji Ishibashi, Tatsuro |
| description | To describe a Japanese patient with lattice corneal dystrophy type I (LCD I) who lacked the typical lattice lines.
Interventional case report.
A complete ophthalmologic examination was performed on a 54-year-old woman, and the TGFBI gene was analyzed by direct genomic sequencing.
The patient had diffuse opacification of the central corneal stroma but without lattice lines and corneal epithelial erosions bilaterally. Molecular genetic analysis identified a lattice corneal dystrophy I–associated heterozygous missense alteration (C417T) that changed arginine in codon 124 to cysteine (R124C) in the TGFBI gene.
The cornea of the patient appeared to represent late-stage lattice corneal dystrophy I, which suggests the existence of interactions of modifier genes, environmental factors during corneal aging, or both. The molecular genetic analysis of TGFBI can offer rapid, accurate diagnosis of patients with atypical corneal appearance. |
| doi_str_mv | 10.1016/j.ajo.2003.09.003 |
| format | Article |
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Interventional case report.
A complete ophthalmologic examination was performed on a 54-year-old woman, and the TGFBI gene was analyzed by direct genomic sequencing.
The patient had diffuse opacification of the central corneal stroma but without lattice lines and corneal epithelial erosions bilaterally. Molecular genetic analysis identified a lattice corneal dystrophy I–associated heterozygous missense alteration (C417T) that changed arginine in codon 124 to cysteine (R124C) in the TGFBI gene.
The cornea of the patient appeared to represent late-stage lattice corneal dystrophy I, which suggests the existence of interactions of modifier genes, environmental factors during corneal aging, or both. The molecular genetic analysis of TGFBI can offer rapid, accurate diagnosis of patients with atypical corneal appearance.</description><identifier>ISSN: 0002-9394</identifier><identifier>EISSN: 1879-1891</identifier><identifier>DOI: 10.1016/j.ajo.2003.09.003</identifier><identifier>PMID: 15013897</identifier><identifier>CODEN: AJOPAA</identifier><language>eng</language><publisher>New York, NY: Elsevier Inc</publisher><subject>Biological and medical sciences ; Corneal Dystrophies, Hereditary - diagnosis ; Corneal Dystrophies, Hereditary - genetics ; Corneal Opacity - diagnosis ; Corneal Opacity - genetics ; Corneal Stroma - pathology ; Diseases of cornea, anterior segment and sclera ; DNA Mutational Analysis ; Extracellular Matrix Proteins - genetics ; Female ; Genes ; Humans ; Medical sciences ; Middle Aged ; Mutation ; Mutation, Missense ; Ophthalmology ; Patients ; Transforming Growth Factor beta - genetics ; Visual Acuity</subject><ispartof>American journal of ophthalmology, 2004-03, Vol.137 (3), p.586-588</ispartof><rights>2003 Elsevier Inc.</rights><rights>2004 INIST-CNRS</rights><rights>Copyright Elsevier Limited Mar 2004</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c473t-986aa110eb4fe7712b40663e669eca9943a56430289a9544ce9c608fc959eea23</citedby><cites>FETCH-LOGICAL-c473t-986aa110eb4fe7712b40663e669eca9943a56430289a9544ce9c608fc959eea23</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktohtml>$$Uhttps://www.sciencedirect.com/science/article/pii/S0002939403010766$$EHTML$$P50$$Gelsevier$$H</linktohtml><link.rule.ids>314,776,780,3537,27901,27902,65306</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=15587755$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/15013897$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Yoshida, Shigeo</creatorcontrib><creatorcontrib>Yoshida, Ayako</creatorcontrib><creatorcontrib>Nakao, Shintaro</creatorcontrib><creatorcontrib>Emori, Aki</creatorcontrib><creatorcontrib>Nakamura, Takao</creatorcontrib><creatorcontrib>Fujisawa, Kimihiko</creatorcontrib><creatorcontrib>Kumano, Yuji</creatorcontrib><creatorcontrib>Ishibashi, Tatsuro</creatorcontrib><title>Lattice corneal dystrophy type I without typical lattice lines: role of mutational analysis</title><title>American journal of ophthalmology</title><addtitle>Am J Ophthalmol</addtitle><description>To describe a Japanese patient with lattice corneal dystrophy type I (LCD I) who lacked the typical lattice lines.
Interventional case report.
A complete ophthalmologic examination was performed on a 54-year-old woman, and the TGFBI gene was analyzed by direct genomic sequencing.
The patient had diffuse opacification of the central corneal stroma but without lattice lines and corneal epithelial erosions bilaterally. Molecular genetic analysis identified a lattice corneal dystrophy I–associated heterozygous missense alteration (C417T) that changed arginine in codon 124 to cysteine (R124C) in the TGFBI gene.
The cornea of the patient appeared to represent late-stage lattice corneal dystrophy I, which suggests the existence of interactions of modifier genes, environmental factors during corneal aging, or both. The molecular genetic analysis of TGFBI can offer rapid, accurate diagnosis of patients with atypical corneal appearance.</description><subject>Biological and medical sciences</subject><subject>Corneal Dystrophies, Hereditary - diagnosis</subject><subject>Corneal Dystrophies, Hereditary - genetics</subject><subject>Corneal Opacity - diagnosis</subject><subject>Corneal Opacity - genetics</subject><subject>Corneal Stroma - pathology</subject><subject>Diseases of cornea, anterior segment and sclera</subject><subject>DNA Mutational Analysis</subject><subject>Extracellular Matrix Proteins - genetics</subject><subject>Female</subject><subject>Genes</subject><subject>Humans</subject><subject>Medical sciences</subject><subject>Middle Aged</subject><subject>Mutation</subject><subject>Mutation, Missense</subject><subject>Ophthalmology</subject><subject>Patients</subject><subject>Transforming Growth Factor beta - genetics</subject><subject>Visual Acuity</subject><issn>0002-9394</issn><issn>1879-1891</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2004</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNp9kE-LFDEUxIMo7uzqB_AiDaK37k066fzRkyyuuzDgZT15CJnMazZNT2dM0kp_e98wDYqHvbziwa-Kogh5w2jDKJPXQ-OG2LSU8oaaBuUZ2TCtTM20Yc_JhlLa1oYbcUEucx7wlUqol-SCdZRxbdSG_Ni6UoKHysc0gRur_ZJLisfHpSrLEar76ncoj3Eupzd4BMbVMIYJ8scqxRGq2FeHubgS4oSEw7PkkF-RF70bM7xe9Yp8v_3ycHNXb799vb_5vK29ULzURkvnGKOwEz0oxdqdoFJykNKAd8YI7jopOG21caYTwoPxkurem84AuJZfkQ_n3GOKP2fIxR5C9jCOboI4Z6uYYoZpjuC7_8AhzgnbZss67CI0xiPFzpRPMecEvT2mcHBpsYza0-52sLi7Pe1uqbEo6Hm7Js-7A-z_OtahEXi_Ai7jin1ykw_5H67TSnUdcp_OHOBgvwIkm32AycM-JPDF7mN4osYfqgGfpA</recordid><startdate>20040301</startdate><enddate>20040301</enddate><creator>Yoshida, Shigeo</creator><creator>Yoshida, Ayako</creator><creator>Nakao, Shintaro</creator><creator>Emori, Aki</creator><creator>Nakamura, Takao</creator><creator>Fujisawa, Kimihiko</creator><creator>Kumano, Yuji</creator><creator>Ishibashi, Tatsuro</creator><general>Elsevier Inc</general><general>Elsevier</general><general>Elsevier Limited</general><scope>IQODW</scope><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>K9.</scope><scope>NAPCQ</scope><scope>7X8</scope></search><sort><creationdate>20040301</creationdate><title>Lattice corneal dystrophy type I without typical lattice lines: role of mutational analysis</title><author>Yoshida, Shigeo ; Yoshida, Ayako ; Nakao, Shintaro ; Emori, Aki ; Nakamura, Takao ; Fujisawa, Kimihiko ; Kumano, Yuji ; Ishibashi, Tatsuro</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c473t-986aa110eb4fe7712b40663e669eca9943a56430289a9544ce9c608fc959eea23</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2004</creationdate><topic>Biological and medical sciences</topic><topic>Corneal Dystrophies, Hereditary - diagnosis</topic><topic>Corneal Dystrophies, Hereditary - genetics</topic><topic>Corneal Opacity - diagnosis</topic><topic>Corneal Opacity - genetics</topic><topic>Corneal Stroma - pathology</topic><topic>Diseases of cornea, anterior segment and sclera</topic><topic>DNA Mutational Analysis</topic><topic>Extracellular Matrix Proteins - genetics</topic><topic>Female</topic><topic>Genes</topic><topic>Humans</topic><topic>Medical sciences</topic><topic>Middle Aged</topic><topic>Mutation</topic><topic>Mutation, Missense</topic><topic>Ophthalmology</topic><topic>Patients</topic><topic>Transforming Growth Factor beta - genetics</topic><topic>Visual Acuity</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Yoshida, Shigeo</creatorcontrib><creatorcontrib>Yoshida, Ayako</creatorcontrib><creatorcontrib>Nakao, Shintaro</creatorcontrib><creatorcontrib>Emori, Aki</creatorcontrib><creatorcontrib>Nakamura, Takao</creatorcontrib><creatorcontrib>Fujisawa, Kimihiko</creatorcontrib><creatorcontrib>Kumano, Yuji</creatorcontrib><creatorcontrib>Ishibashi, Tatsuro</creatorcontrib><collection>Pascal-Francis</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>Nursing & Allied Health Premium</collection><collection>MEDLINE - Academic</collection><jtitle>American journal of ophthalmology</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Yoshida, Shigeo</au><au>Yoshida, Ayako</au><au>Nakao, Shintaro</au><au>Emori, Aki</au><au>Nakamura, Takao</au><au>Fujisawa, Kimihiko</au><au>Kumano, Yuji</au><au>Ishibashi, Tatsuro</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Lattice corneal dystrophy type I without typical lattice lines: role of mutational analysis</atitle><jtitle>American journal of ophthalmology</jtitle><addtitle>Am J Ophthalmol</addtitle><date>2004-03-01</date><risdate>2004</risdate><volume>137</volume><issue>3</issue><spage>586</spage><epage>588</epage><pages>586-588</pages><issn>0002-9394</issn><eissn>1879-1891</eissn><coden>AJOPAA</coden><abstract>To describe a Japanese patient with lattice corneal dystrophy type I (LCD I) who lacked the typical lattice lines.
Interventional case report.
A complete ophthalmologic examination was performed on a 54-year-old woman, and the TGFBI gene was analyzed by direct genomic sequencing.
The patient had diffuse opacification of the central corneal stroma but without lattice lines and corneal epithelial erosions bilaterally. Molecular genetic analysis identified a lattice corneal dystrophy I–associated heterozygous missense alteration (C417T) that changed arginine in codon 124 to cysteine (R124C) in the TGFBI gene.
The cornea of the patient appeared to represent late-stage lattice corneal dystrophy I, which suggests the existence of interactions of modifier genes, environmental factors during corneal aging, or both. The molecular genetic analysis of TGFBI can offer rapid, accurate diagnosis of patients with atypical corneal appearance.</abstract><cop>New York, NY</cop><pub>Elsevier Inc</pub><pmid>15013897</pmid><doi>10.1016/j.ajo.2003.09.003</doi><tpages>3</tpages></addata></record> |
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| subjects | Biological and medical sciences Corneal Dystrophies, Hereditary - diagnosis Corneal Dystrophies, Hereditary - genetics Corneal Opacity - diagnosis Corneal Opacity - genetics Corneal Stroma - pathology Diseases of cornea, anterior segment and sclera DNA Mutational Analysis Extracellular Matrix Proteins - genetics Female Genes Humans Medical sciences Middle Aged Mutation Mutation, Missense Ophthalmology Patients Transforming Growth Factor beta - genetics Visual Acuity |
| title | Lattice corneal dystrophy type I without typical lattice lines: role of mutational analysis |
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