Corneal Decompensation in Recessive Cornea Plana
Purpose: To report corneal decompensation in 3 patients with recessive cornea plana. Methods: Retrospective case series. Results: An adult and two children (all unrelated) with clinical recessive cornea plana had gradual decrease in vision. Ophthalmic examination revealed corneal decompensation (str...
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| Veröffentlicht in: | Ophthalmic genetics 2009, Vol.30 (3), p.142-145 |
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| creator | Khan, Arif O. Aldahmesh, Mohammed A. Al-Gehedan, Saeed Meyer, Brain F. Alkuraya, Fowzan S. |
| description | Purpose: To report corneal decompensation in 3 patients with recessive cornea plana. Methods: Retrospective case series. Results: An adult and two children (all unrelated) with clinical recessive cornea plana had gradual decrease in vision. Ophthalmic examination revealed corneal decompensation (stromal thickening and haze without epithelial changes) in the 3 patients. Diagnostic DNA sequencing revealed homozygosity for a novel splice (c.995-2A>G) in the adult and 2 previously reported KERA mutations in the 2 children (c.1033delC[p.C343AFsX] and c.945C > T[p.R313X]). Conclusions: The phenotype of recessive cornea plana can rarely include corneal decompensation. There are likely modifying factors that can lead to endothelial cell dysfunction in the setting of homozygous KERA mutation. |
| doi_str_mv | 10.1080/13816810902937084 |
| format | Article |
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Methods: Retrospective case series. Results: An adult and two children (all unrelated) with clinical recessive cornea plana had gradual decrease in vision. Ophthalmic examination revealed corneal decompensation (stromal thickening and haze without epithelial changes) in the 3 patients. Diagnostic DNA sequencing revealed homozygosity for a novel splice (c.995-2A>G) in the adult and 2 previously reported KERA mutations in the 2 children (c.1033delC[p.C343AFsX] and c.945C > T[p.R313X]). Conclusions: The phenotype of recessive cornea plana can rarely include corneal decompensation. There are likely modifying factors that can lead to endothelial cell dysfunction in the setting of homozygous KERA mutation.</description><identifier>ISSN: 1381-6810</identifier><identifier>EISSN: 1744-5094</identifier><identifier>DOI: 10.1080/13816810902937084</identifier><identifier>PMID: 19941419</identifier><language>eng</language><publisher>England: Informa UK Ltd</publisher><subject>Child ; cornea plana ; corneal decompensation ; Corneal Diseases - genetics ; Corneal Diseases - pathology ; endothelial cell ; Female ; Genes, Recessive ; Humans ; KERA ; Male ; Middle Aged ; Mutation - genetics ; Proteoglycans - genetics ; Retrospective Studies</subject><ispartof>Ophthalmic genetics, 2009, Vol.30 (3), p.142-145</ispartof><rights>2009 Informa UK Ltd All rights reserved: reproduction in whole or part not permitted 2009</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c437t-c54144dee5d1d42a433399cc84a7bdfb77d1d89509ffc0bb2feb8f164327ea563</citedby><cites>FETCH-LOGICAL-c437t-c54144dee5d1d42a433399cc84a7bdfb77d1d89509ffc0bb2feb8f164327ea563</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://www.tandfonline.com/doi/pdf/10.1080/13816810902937084$$EPDF$$P50$$Ginformaworld$$H</linktopdf><linktohtml>$$Uhttps://www.tandfonline.com/doi/full/10.1080/13816810902937084$$EHTML$$P50$$Ginformaworld$$H</linktohtml><link.rule.ids>314,780,784,4024,27923,27924,27925,59647,59753,60436,60542,61221,61256,61402,61437</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/19941419$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Khan, Arif O.</creatorcontrib><creatorcontrib>Aldahmesh, Mohammed A.</creatorcontrib><creatorcontrib>Al-Gehedan, Saeed</creatorcontrib><creatorcontrib>Meyer, Brain F.</creatorcontrib><creatorcontrib>Alkuraya, Fowzan S.</creatorcontrib><title>Corneal Decompensation in Recessive Cornea Plana</title><title>Ophthalmic genetics</title><addtitle>Ophthalmic Genet</addtitle><description>Purpose: To report corneal decompensation in 3 patients with recessive cornea plana. Methods: Retrospective case series. Results: An adult and two children (all unrelated) with clinical recessive cornea plana had gradual decrease in vision. Ophthalmic examination revealed corneal decompensation (stromal thickening and haze without epithelial changes) in the 3 patients. Diagnostic DNA sequencing revealed homozygosity for a novel splice (c.995-2A>G) in the adult and 2 previously reported KERA mutations in the 2 children (c.1033delC[p.C343AFsX] and c.945C > T[p.R313X]). Conclusions: The phenotype of recessive cornea plana can rarely include corneal decompensation. There are likely modifying factors that can lead to endothelial cell dysfunction in the setting of homozygous KERA mutation.</description><subject>Child</subject><subject>cornea plana</subject><subject>corneal decompensation</subject><subject>Corneal Diseases - genetics</subject><subject>Corneal Diseases - pathology</subject><subject>endothelial cell</subject><subject>Female</subject><subject>Genes, Recessive</subject><subject>Humans</subject><subject>KERA</subject><subject>Male</subject><subject>Middle Aged</subject><subject>Mutation - genetics</subject><subject>Proteoglycans - genetics</subject><subject>Retrospective Studies</subject><issn>1381-6810</issn><issn>1744-5094</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2009</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqFkV9LwzAUxYMoOqcfwBfpm0_V3CZtE_RF5l8YKKLPIU1vWKVtZtIp-_ZmbCAizKdckt85OZxLyAnQc6CCXgATUAigkmaSlVTwHTKCkvM0p5Lvxjm-pyvggByG8E5plgHk--QApOTAQY4InTjfo26TGzSum2Mf9NC4Pmn65AUNhtB8YrJmkudW9_qI7FndBjzenGPydnf7OnlIp0_3j5PraWo4K4fU5PEDXiPmNdQ805wxJqUxguuyqm1VlvFeyBjUWkOrKrNYCQsFZ1mJOi_YmJytfefefSwwDKprgsE2ZkC3CKrkESoEE_-TjEMuocgiCWvSeBeCR6vmvum0XyqgatWo-tNo1Jxu3BdVh_WPYlNhBK7WQNNb5zv95Xxbq0EvW-et171pgmLb_C9_yWdxGcPMaI_q3S18Hzveku4bnHGUqA</recordid><startdate>2009</startdate><enddate>2009</enddate><creator>Khan, Arif O.</creator><creator>Aldahmesh, Mohammed A.</creator><creator>Al-Gehedan, Saeed</creator><creator>Meyer, Brain F.</creator><creator>Alkuraya, Fowzan S.</creator><general>Informa UK Ltd</general><general>Taylor & Francis</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>7X8</scope><scope>8FD</scope><scope>FR3</scope><scope>P64</scope><scope>RC3</scope></search><sort><creationdate>2009</creationdate><title>Corneal Decompensation in Recessive Cornea Plana</title><author>Khan, Arif O. ; Aldahmesh, Mohammed A. ; Al-Gehedan, Saeed ; Meyer, Brain F. ; Alkuraya, Fowzan S.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c437t-c54144dee5d1d42a433399cc84a7bdfb77d1d89509ffc0bb2feb8f164327ea563</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2009</creationdate><topic>Child</topic><topic>cornea plana</topic><topic>corneal decompensation</topic><topic>Corneal Diseases - genetics</topic><topic>Corneal Diseases - pathology</topic><topic>endothelial cell</topic><topic>Female</topic><topic>Genes, Recessive</topic><topic>Humans</topic><topic>KERA</topic><topic>Male</topic><topic>Middle Aged</topic><topic>Mutation - genetics</topic><topic>Proteoglycans - genetics</topic><topic>Retrospective Studies</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Khan, Arif O.</creatorcontrib><creatorcontrib>Aldahmesh, Mohammed A.</creatorcontrib><creatorcontrib>Al-Gehedan, Saeed</creatorcontrib><creatorcontrib>Meyer, Brain F.</creatorcontrib><creatorcontrib>Alkuraya, Fowzan S.</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>MEDLINE - Academic</collection><collection>Technology Research Database</collection><collection>Engineering Research Database</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>Genetics Abstracts</collection><jtitle>Ophthalmic genetics</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Khan, Arif O.</au><au>Aldahmesh, Mohammed A.</au><au>Al-Gehedan, Saeed</au><au>Meyer, Brain F.</au><au>Alkuraya, Fowzan S.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Corneal Decompensation in Recessive Cornea Plana</atitle><jtitle>Ophthalmic genetics</jtitle><addtitle>Ophthalmic Genet</addtitle><date>2009</date><risdate>2009</risdate><volume>30</volume><issue>3</issue><spage>142</spage><epage>145</epage><pages>142-145</pages><issn>1381-6810</issn><eissn>1744-5094</eissn><abstract>Purpose: To report corneal decompensation in 3 patients with recessive cornea plana. Methods: Retrospective case series. Results: An adult and two children (all unrelated) with clinical recessive cornea plana had gradual decrease in vision. Ophthalmic examination revealed corneal decompensation (stromal thickening and haze without epithelial changes) in the 3 patients. Diagnostic DNA sequencing revealed homozygosity for a novel splice (c.995-2A>G) in the adult and 2 previously reported KERA mutations in the 2 children (c.1033delC[p.C343AFsX] and c.945C > T[p.R313X]). Conclusions: The phenotype of recessive cornea plana can rarely include corneal decompensation. There are likely modifying factors that can lead to endothelial cell dysfunction in the setting of homozygous KERA mutation.</abstract><cop>England</cop><pub>Informa UK Ltd</pub><pmid>19941419</pmid><doi>10.1080/13816810902937084</doi><tpages>4</tpages></addata></record> |
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| subjects | Child cornea plana corneal decompensation Corneal Diseases - genetics Corneal Diseases - pathology endothelial cell Female Genes, Recessive Humans KERA Male Middle Aged Mutation - genetics Proteoglycans - genetics Retrospective Studies |
| title | Corneal Decompensation in Recessive Cornea Plana |
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