Macular corneal dystrophy and associated corneal thinning
Purpose To identify the molecular genetic cause of macular corneal dystrophy (MCD) in four probands, and characterize phenotypic similarities between MCD and keratoconus. Methods We performed ophthalmological examination, Scheimpflug imaging (Pentacam, Oculus Inc.), histopathological examination of...
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| Veröffentlicht in: | Eye (London) 2014-10, Vol.28 (10), p.1201-1205 |
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| creator | Dudakova, L Palos, M Svobodova, M Bydzovsky, J Huna, L Jirsova, K Hardcastle, A J Tuft, S J Liskova, P |
| description | Purpose
To identify the molecular genetic cause of macular corneal dystrophy (MCD) in four probands, and characterize phenotypic similarities between MCD and keratoconus.
Methods
We performed ophthalmological examination, Scheimpflug imaging (Pentacam, Oculus Inc.), histopathological examination of excised corneal buttons, and direct sequencing of the
CHST6
coding region.
Results
Pentacam measurements were taken in six eyes of three probands. All showed diffuse corneal thinning with paracentral steepening of the anterior corneal surface that was graded as keratoconus by the integrated software, but without associated ectasia of the posterior corneal surface or regional thinning. Homozygous or compound heterozygous
CHST6
mutations were identified in all cases, including two novel mutations, c.13C>T; p.(Arg5Cys) and c.289C>T; p.(Arg97Cys).
Discussion
Localized elevation of the anterior corneal curvature can occur in MCD in the absence of other features of keratoconus. The identification of a further two Czech probands with the compound allele c.[484C>G; 599T>G] supports the enrichment of this allele in the study population. |
| doi_str_mv | 10.1038/eye.2014.164 |
| format | Article |
| fullrecord | <record><control><sourceid>proquest_pubme</sourceid><recordid>TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_4194335</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><sourcerecordid>1610763449</sourcerecordid><originalsourceid>FETCH-LOGICAL-c520t-3de27066055d0e690a7ba8719753d407aeb70b80e5330d3b285129809e039cf13</originalsourceid><addsrcrecordid>eNpt0UtLAzEUBeAgitbHzrUU3Lhw6s1rMtkIIr6g4kbBXcjM3LYj06QmM0L_vSnVouIqi_vlJJdDyDGFEQVeXOASRwyoGNFcbJEBFSrPpJBimwxAS8gYY697ZD_GN0hKKdgle0xCQVkhBkQ_2qpvbRhWPji07bBexi74xWw5tK4e2hh91dgO6w3oZo1zjZsekp2JbSMefZ0H5OX25vn6Phs_3T1cX42zSjLoMl4jU5DnIGUNmGuwqrSFolpJXgtQFksFZQEoOYeal6yQlOkCNALX1YTyA3K5zl305RzrCl0XbGsWoZnbsDTeNub3xDUzM_UfRlAtOJcp4OwrIPj3HmNn5k2ssG2tQ99HQ3MKKudC6ERP_9A33weX1ksKNAcuoEjqfK2q4GMMONl8hoJZdWJSJ2bVSbolEj_5ucAGf5eQQLYGMY3cFMOPV_8L_ATB15V_</addsrcrecordid><sourcetype>Open Access Repository</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype><pqid>1609303408</pqid></control><display><type>article</type><title>Macular corneal dystrophy and associated corneal thinning</title><source>MEDLINE</source><source>EZB-FREE-00999 freely available EZB journals</source><source>PubMed Central</source><source>Alma/SFX Local Collection</source><creator>Dudakova, L ; Palos, M ; Svobodova, M ; Bydzovsky, J ; Huna, L ; Jirsova, K ; Hardcastle, A J ; Tuft, S J ; Liskova, P</creator><creatorcontrib>Dudakova, L ; Palos, M ; Svobodova, M ; Bydzovsky, J ; Huna, L ; Jirsova, K ; Hardcastle, A J ; Tuft, S J ; Liskova, P</creatorcontrib><description>Purpose
To identify the molecular genetic cause of macular corneal dystrophy (MCD) in four probands, and characterize phenotypic similarities between MCD and keratoconus.
Methods
We performed ophthalmological examination, Scheimpflug imaging (Pentacam, Oculus Inc.), histopathological examination of excised corneal buttons, and direct sequencing of the
CHST6
coding region.
Results
Pentacam measurements were taken in six eyes of three probands. All showed diffuse corneal thinning with paracentral steepening of the anterior corneal surface that was graded as keratoconus by the integrated software, but without associated ectasia of the posterior corneal surface or regional thinning. Homozygous or compound heterozygous
CHST6
mutations were identified in all cases, including two novel mutations, c.13C>T; p.(Arg5Cys) and c.289C>T; p.(Arg97Cys).
Discussion
Localized elevation of the anterior corneal curvature can occur in MCD in the absence of other features of keratoconus. The identification of a further two Czech probands with the compound allele c.[484C>G; 599T>G] supports the enrichment of this allele in the study population.</description><identifier>ISSN: 0950-222X</identifier><identifier>EISSN: 1476-5454</identifier><identifier>DOI: 10.1038/eye.2014.164</identifier><identifier>PMID: 25081284</identifier><language>eng</language><publisher>London: Nature Publishing Group UK</publisher><subject>13/1 ; 13/51 ; 45/22 ; 45/23 ; 45/29 ; 631/208/2489/144 ; Adolescent ; Adult ; Carbohydrate Sulfotransferases ; Clinical Study ; Cornea - pathology ; Corneal Dystrophies, Hereditary - genetics ; Corneal Dystrophies, Hereditary - pathology ; Corneal Pachymetry ; Corneal Topography ; Female ; Humans ; Laboratory Medicine ; Male ; Medicine ; Medicine & Public Health ; Mutation ; Ophthalmology ; Organ Size ; Pharmaceutical Sciences/Technology ; Sulfotransferases - genetics ; Surgery ; Surgical Oncology</subject><ispartof>Eye (London), 2014-10, Vol.28 (10), p.1201-1205</ispartof><rights>Royal College of Ophthalmologists 2014</rights><rights>Copyright Nature Publishing Group Oct 2014</rights><rights>Copyright © 2014 Royal College of Ophthalmologists 2014 Royal College of Ophthalmologists</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c520t-3de27066055d0e690a7ba8719753d407aeb70b80e5330d3b285129809e039cf13</citedby><cites>FETCH-LOGICAL-c520t-3de27066055d0e690a7ba8719753d407aeb70b80e5330d3b285129809e039cf13</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC4194335/pdf/$$EPDF$$P50$$Gpubmedcentral$$H</linktopdf><linktohtml>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC4194335/$$EHTML$$P50$$Gpubmedcentral$$H</linktohtml><link.rule.ids>230,315,728,781,785,886,27929,27930,53796,53798</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/25081284$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Dudakova, L</creatorcontrib><creatorcontrib>Palos, M</creatorcontrib><creatorcontrib>Svobodova, M</creatorcontrib><creatorcontrib>Bydzovsky, J</creatorcontrib><creatorcontrib>Huna, L</creatorcontrib><creatorcontrib>Jirsova, K</creatorcontrib><creatorcontrib>Hardcastle, A J</creatorcontrib><creatorcontrib>Tuft, S J</creatorcontrib><creatorcontrib>Liskova, P</creatorcontrib><title>Macular corneal dystrophy and associated corneal thinning</title><title>Eye (London)</title><addtitle>Eye</addtitle><addtitle>Eye (Lond)</addtitle><description>Purpose
To identify the molecular genetic cause of macular corneal dystrophy (MCD) in four probands, and characterize phenotypic similarities between MCD and keratoconus.
Methods
We performed ophthalmological examination, Scheimpflug imaging (Pentacam, Oculus Inc.), histopathological examination of excised corneal buttons, and direct sequencing of the
CHST6
coding region.
Results
Pentacam measurements were taken in six eyes of three probands. All showed diffuse corneal thinning with paracentral steepening of the anterior corneal surface that was graded as keratoconus by the integrated software, but without associated ectasia of the posterior corneal surface or regional thinning. Homozygous or compound heterozygous
CHST6
mutations were identified in all cases, including two novel mutations, c.13C>T; p.(Arg5Cys) and c.289C>T; p.(Arg97Cys).
Discussion
Localized elevation of the anterior corneal curvature can occur in MCD in the absence of other features of keratoconus. The identification of a further two Czech probands with the compound allele c.[484C>G; 599T>G] supports the enrichment of this allele in the study population.</description><subject>13/1</subject><subject>13/51</subject><subject>45/22</subject><subject>45/23</subject><subject>45/29</subject><subject>631/208/2489/144</subject><subject>Adolescent</subject><subject>Adult</subject><subject>Carbohydrate Sulfotransferases</subject><subject>Clinical Study</subject><subject>Cornea - pathology</subject><subject>Corneal Dystrophies, Hereditary - genetics</subject><subject>Corneal Dystrophies, Hereditary - pathology</subject><subject>Corneal Pachymetry</subject><subject>Corneal Topography</subject><subject>Female</subject><subject>Humans</subject><subject>Laboratory Medicine</subject><subject>Male</subject><subject>Medicine</subject><subject>Medicine & Public Health</subject><subject>Mutation</subject><subject>Ophthalmology</subject><subject>Organ Size</subject><subject>Pharmaceutical Sciences/Technology</subject><subject>Sulfotransferases - genetics</subject><subject>Surgery</subject><subject>Surgical Oncology</subject><issn>0950-222X</issn><issn>1476-5454</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2014</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><sourceid>ABUWG</sourceid><sourceid>AFKRA</sourceid><sourceid>AZQEC</sourceid><sourceid>BENPR</sourceid><sourceid>CCPQU</sourceid><sourceid>DWQXO</sourceid><sourceid>GNUQQ</sourceid><recordid>eNpt0UtLAzEUBeAgitbHzrUU3Lhw6s1rMtkIIr6g4kbBXcjM3LYj06QmM0L_vSnVouIqi_vlJJdDyDGFEQVeXOASRwyoGNFcbJEBFSrPpJBimwxAS8gYY697ZD_GN0hKKdgle0xCQVkhBkQ_2qpvbRhWPji07bBexi74xWw5tK4e2hh91dgO6w3oZo1zjZsekp2JbSMefZ0H5OX25vn6Phs_3T1cX42zSjLoMl4jU5DnIGUNmGuwqrSFolpJXgtQFksFZQEoOYeal6yQlOkCNALX1YTyA3K5zl305RzrCl0XbGsWoZnbsDTeNub3xDUzM_UfRlAtOJcp4OwrIPj3HmNn5k2ssG2tQ99HQ3MKKudC6ERP_9A33weX1ksKNAcuoEjqfK2q4GMMONl8hoJZdWJSJ2bVSbolEj_5ucAGf5eQQLYGMY3cFMOPV_8L_ATB15V_</recordid><startdate>20141001</startdate><enddate>20141001</enddate><creator>Dudakova, L</creator><creator>Palos, M</creator><creator>Svobodova, M</creator><creator>Bydzovsky, J</creator><creator>Huna, L</creator><creator>Jirsova, K</creator><creator>Hardcastle, A J</creator><creator>Tuft, S J</creator><creator>Liskova, P</creator><general>Nature Publishing Group UK</general><general>Nature Publishing Group</general><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>3V.</scope><scope>7TK</scope><scope>7X7</scope><scope>7XB</scope><scope>88E</scope><scope>8AO</scope><scope>8FE</scope><scope>8FH</scope><scope>8FI</scope><scope>8FJ</scope><scope>8FK</scope><scope>ABUWG</scope><scope>AFKRA</scope><scope>AZQEC</scope><scope>BBNVY</scope><scope>BENPR</scope><scope>BHPHI</scope><scope>CCPQU</scope><scope>DWQXO</scope><scope>FYUFA</scope><scope>GHDGH</scope><scope>GNUQQ</scope><scope>HCIFZ</scope><scope>K9.</scope><scope>LK8</scope><scope>M0S</scope><scope>M1P</scope><scope>M7P</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>7X8</scope><scope>5PM</scope></search><sort><creationdate>20141001</creationdate><title>Macular corneal dystrophy and associated corneal thinning</title><author>Dudakova, L ; Palos, M ; Svobodova, M ; Bydzovsky, J ; Huna, L ; Jirsova, K ; Hardcastle, A J ; Tuft, S J ; Liskova, P</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c520t-3de27066055d0e690a7ba8719753d407aeb70b80e5330d3b285129809e039cf13</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2014</creationdate><topic>13/1</topic><topic>13/51</topic><topic>45/22</topic><topic>45/23</topic><topic>45/29</topic><topic>631/208/2489/144</topic><topic>Adolescent</topic><topic>Adult</topic><topic>Carbohydrate Sulfotransferases</topic><topic>Clinical Study</topic><topic>Cornea - pathology</topic><topic>Corneal Dystrophies, Hereditary - genetics</topic><topic>Corneal Dystrophies, Hereditary - pathology</topic><topic>Corneal Pachymetry</topic><topic>Corneal Topography</topic><topic>Female</topic><topic>Humans</topic><topic>Laboratory Medicine</topic><topic>Male</topic><topic>Medicine</topic><topic>Medicine & Public Health</topic><topic>Mutation</topic><topic>Ophthalmology</topic><topic>Organ Size</topic><topic>Pharmaceutical Sciences/Technology</topic><topic>Sulfotransferases - genetics</topic><topic>Surgery</topic><topic>Surgical Oncology</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Dudakova, L</creatorcontrib><creatorcontrib>Palos, M</creatorcontrib><creatorcontrib>Svobodova, M</creatorcontrib><creatorcontrib>Bydzovsky, J</creatorcontrib><creatorcontrib>Huna, L</creatorcontrib><creatorcontrib>Jirsova, K</creatorcontrib><creatorcontrib>Hardcastle, A J</creatorcontrib><creatorcontrib>Tuft, S J</creatorcontrib><creatorcontrib>Liskova, P</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>ProQuest Central (Corporate)</collection><collection>Neurosciences Abstracts</collection><collection>Health & Medical Collection</collection><collection>ProQuest Central (purchase pre-March 2016)</collection><collection>Medical Database (Alumni Edition)</collection><collection>ProQuest Pharma Collection</collection><collection>ProQuest SciTech Collection</collection><collection>ProQuest Natural Science Collection</collection><collection>Hospital Premium Collection</collection><collection>Hospital Premium Collection (Alumni Edition)</collection><collection>ProQuest Central (Alumni) (purchase pre-March 2016)</collection><collection>ProQuest Central (Alumni Edition)</collection><collection>ProQuest Central UK/Ireland</collection><collection>ProQuest Central Essentials</collection><collection>Biological Science Collection</collection><collection>ProQuest Central</collection><collection>Natural Science Collection</collection><collection>ProQuest One Community College</collection><collection>ProQuest Central Korea</collection><collection>Health Research Premium Collection</collection><collection>Health Research Premium Collection (Alumni)</collection><collection>ProQuest Central Student</collection><collection>SciTech Premium Collection</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>ProQuest Biological Science Collection</collection><collection>Health & Medical Collection (Alumni Edition)</collection><collection>Medical Database</collection><collection>Biological Science Database</collection><collection>ProQuest One Academic Eastern Edition (DO NOT USE)</collection><collection>ProQuest One Academic</collection><collection>ProQuest One Academic UKI Edition</collection><collection>MEDLINE - Academic</collection><collection>PubMed Central (Full Participant titles)</collection><jtitle>Eye (London)</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Dudakova, L</au><au>Palos, M</au><au>Svobodova, M</au><au>Bydzovsky, J</au><au>Huna, L</au><au>Jirsova, K</au><au>Hardcastle, A J</au><au>Tuft, S J</au><au>Liskova, P</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Macular corneal dystrophy and associated corneal thinning</atitle><jtitle>Eye (London)</jtitle><stitle>Eye</stitle><addtitle>Eye (Lond)</addtitle><date>2014-10-01</date><risdate>2014</risdate><volume>28</volume><issue>10</issue><spage>1201</spage><epage>1205</epage><pages>1201-1205</pages><issn>0950-222X</issn><eissn>1476-5454</eissn><abstract>Purpose
To identify the molecular genetic cause of macular corneal dystrophy (MCD) in four probands, and characterize phenotypic similarities between MCD and keratoconus.
Methods
We performed ophthalmological examination, Scheimpflug imaging (Pentacam, Oculus Inc.), histopathological examination of excised corneal buttons, and direct sequencing of the
CHST6
coding region.
Results
Pentacam measurements were taken in six eyes of three probands. All showed diffuse corneal thinning with paracentral steepening of the anterior corneal surface that was graded as keratoconus by the integrated software, but without associated ectasia of the posterior corneal surface or regional thinning. Homozygous or compound heterozygous
CHST6
mutations were identified in all cases, including two novel mutations, c.13C>T; p.(Arg5Cys) and c.289C>T; p.(Arg97Cys).
Discussion
Localized elevation of the anterior corneal curvature can occur in MCD in the absence of other features of keratoconus. The identification of a further two Czech probands with the compound allele c.[484C>G; 599T>G] supports the enrichment of this allele in the study population.</abstract><cop>London</cop><pub>Nature Publishing Group UK</pub><pmid>25081284</pmid><doi>10.1038/eye.2014.164</doi><tpages>5</tpages><oa>free_for_read</oa></addata></record> |
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| identifier | ISSN: 0950-222X |
| ispartof | Eye (London), 2014-10, Vol.28 (10), p.1201-1205 |
| issn | 0950-222X 1476-5454 |
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| recordid | cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_4194335 |
| source | MEDLINE; EZB-FREE-00999 freely available EZB journals; PubMed Central; Alma/SFX Local Collection |
| subjects | 13/1 13/51 45/22 45/23 45/29 631/208/2489/144 Adolescent Adult Carbohydrate Sulfotransferases Clinical Study Cornea - pathology Corneal Dystrophies, Hereditary - genetics Corneal Dystrophies, Hereditary - pathology Corneal Pachymetry Corneal Topography Female Humans Laboratory Medicine Male Medicine Medicine & Public Health Mutation Ophthalmology Organ Size Pharmaceutical Sciences/Technology Sulfotransferases - genetics Surgery Surgical Oncology |
| title | Macular corneal dystrophy and associated corneal thinning |
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