Novel corneal features in two males with incontinentia pigmenti
Incontinentia pigmenti (IP) is a rare X linked genetic disorder, which predominantly affects females. The mutations are usually lethal in males. Two male cases are presented; a genetic mosaic for the common IP deletion and another in whom the genetic abnormality has not yet been characterised. Empha...
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| Veröffentlicht in: | British journal of ophthalmology 2003-05, Vol.87 (5), p.554-556 |
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| container_title | British journal of ophthalmology |
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| creator | Mayer, E J Shuttleworth, G N Greenhalgh, K L Sansom, J E Grey, R H B Kenwrick, S |
| description | Incontinentia pigmenti (IP) is a rare X linked genetic disorder, which predominantly affects females. The mutations are usually lethal in males. Two male cases are presented; a genetic mosaic for the common IP deletion and another in whom the genetic abnormality has not yet been characterised. Emphasis is placed on the ocular features present in this disorder and in particular a novel corneal feature and its possible aetiology. |
| doi_str_mv | 10.1136/bjo.87.5.554 |
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The mutations are usually lethal in males. Two male cases are presented; a genetic mosaic for the common IP deletion and another in whom the genetic abnormality has not yet been characterised. Emphasis is placed on the ocular features present in this disorder and in particular a novel corneal feature and its possible aetiology.</description><identifier>ISSN: 0007-1161</identifier><identifier>EISSN: 1468-2079</identifier><identifier>DOI: 10.1136/bjo.87.5.554</identifier><identifier>PMID: 12714390</identifier><identifier>CODEN: BJOPAL</identifier><language>eng</language><publisher>BMA House, Tavistock Square, London, WC1H 9JR: BMJ Publishing Group Ltd</publisher><subject>Apoptosis ; Biological and medical sciences ; Cataracts ; Child ; Congenital diseases ; cornea ; Cornea - pathology ; Diseases of cornea, anterior segment and sclera ; Eye diseases ; Fibroblasts ; Fluorescein Angiography ; Gene Deletion ; Genetic aspects ; Humans ; incontinentia pigmenti ; Incontinentia Pigmenti - genetics ; Incontinentia Pigmenti - pathology ; Incontinentia Pigmenti - physiopathology ; Infant ; Inflammation ; Male ; Males ; Medical sciences ; mosaic ; Mutation ; Mutation - genetics ; Nervous system ; Ophthalmology ; retina ; Retina - pathology ; Scientific Correspondence ; Skin ; Visual Acuity - physiology ; Vitreous Hemorrhage - etiology</subject><ispartof>British journal of ophthalmology, 2003-05, Vol.87 (5), p.554-556</ispartof><rights>Copyright 2003 British Journal of Ophthalmology</rights><rights>2003 INIST-CNRS</rights><rights>COPYRIGHT 2003 BMJ Publishing Group Ltd.</rights><rights>Copyright: 2003 Copyright 2003 British Journal of Ophthalmology</rights><rights>Copyright © Copyright 2003 British Journal of Ophthalmology 2003</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-b585t-6bf38d340dac231e3dd2090e6181231702e60f0f23f24e027210042998fd6f2f3</citedby></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC1771667/pdf/$$EPDF$$P50$$Gpubmedcentral$$H</linktopdf><linktohtml>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC1771667/$$EHTML$$P50$$Gpubmedcentral$$H</linktohtml><link.rule.ids>230,315,728,781,785,886,27929,27930,53796,53798</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=14756083$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/12714390$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Mayer, E J</creatorcontrib><creatorcontrib>Shuttleworth, G N</creatorcontrib><creatorcontrib>Greenhalgh, K L</creatorcontrib><creatorcontrib>Sansom, J E</creatorcontrib><creatorcontrib>Grey, R H B</creatorcontrib><creatorcontrib>Kenwrick, S</creatorcontrib><title>Novel corneal features in two males with incontinentia pigmenti</title><title>British journal of ophthalmology</title><addtitle>Br J Ophthalmol</addtitle><description>Incontinentia pigmenti (IP) is a rare X linked genetic disorder, which predominantly affects females. The mutations are usually lethal in males. Two male cases are presented; a genetic mosaic for the common IP deletion and another in whom the genetic abnormality has not yet been characterised. Emphasis is placed on the ocular features present in this disorder and in particular a novel corneal feature and its possible aetiology.</description><subject>Apoptosis</subject><subject>Biological and medical sciences</subject><subject>Cataracts</subject><subject>Child</subject><subject>Congenital diseases</subject><subject>cornea</subject><subject>Cornea - pathology</subject><subject>Diseases of cornea, anterior segment and sclera</subject><subject>Eye diseases</subject><subject>Fibroblasts</subject><subject>Fluorescein Angiography</subject><subject>Gene Deletion</subject><subject>Genetic aspects</subject><subject>Humans</subject><subject>incontinentia pigmenti</subject><subject>Incontinentia Pigmenti - genetics</subject><subject>Incontinentia Pigmenti - pathology</subject><subject>Incontinentia Pigmenti - physiopathology</subject><subject>Infant</subject><subject>Inflammation</subject><subject>Male</subject><subject>Males</subject><subject>Medical sciences</subject><subject>mosaic</subject><subject>Mutation</subject><subject>Mutation - genetics</subject><subject>Nervous system</subject><subject>Ophthalmology</subject><subject>retina</subject><subject>Retina - pathology</subject><subject>Scientific Correspondence</subject><subject>Skin</subject><subject>Visual Acuity - physiology</subject><subject>Vitreous Hemorrhage - etiology</subject><issn>0007-1161</issn><issn>1468-2079</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2003</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><sourceid>ABUWG</sourceid><sourceid>AFKRA</sourceid><sourceid>BENPR</sourceid><sourceid>CCPQU</sourceid><recordid>eNp9kVFv0zAQxyMEYt3gjWcUCQEvpJztxHZehqaOAdI0eADGm-UkdueS2MVONvj2XNVqBTQhS7bv_Ls73_2z7AmBOSGMv25WYS7FvJpXVXkvm5GSy4KCqO9nMwAQBSGcHGSHKa3QpJyIh9kBoYKUrIZZ9uYiXJs-b0P0Rve5NXqcokm58_l4E_JB92jcuPEKPW3wo_MGN52v3XLY3B5lD6zuk3m8O4-yL2dvPy_eF-cf331YnJwXTSWrseCNZbJjJXS6pYwY1nUUajCcSIK2AGo4WLCUWVoaoIISgJLWtbQdt9Syo-x4m3c9NYPpWqwdda_W0Q06_lJBO_X3i3dXahmuFRGCcC4wwYtdghh-TCaNanCpNX2vvQlTUoLRUtKaIfjsH3AVpuixuU2uGqCWUCFVbKklTkg5bwNWbZfGGywevLEO3ScECK84lRT5-R08rs4Mrr0z4NU2oI0hpWjsba8E1EZ4hcIrKVSlUHjEn_45nz28UxqB5ztAp1b3NmrfurTnSlFxkGzfmEuj-Xn7ruN3hVMUlbr4ulDw7fKSnX06VQT5l1u-GVb__-JvoTbQJQ</recordid><startdate>20030501</startdate><enddate>20030501</enddate><creator>Mayer, E J</creator><creator>Shuttleworth, G N</creator><creator>Greenhalgh, K L</creator><creator>Sansom, J E</creator><creator>Grey, R H B</creator><creator>Kenwrick, S</creator><general>BMJ Publishing Group Ltd</general><general>BMJ</general><general>BMJ Publishing Group LTD</general><general>Copyright 2003 British Journal of Ophthalmology</general><scope>BSCLL</scope><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>3V.</scope><scope>7X7</scope><scope>7XB</scope><scope>88E</scope><scope>8FI</scope><scope>8FJ</scope><scope>8FK</scope><scope>ABUWG</scope><scope>AFKRA</scope><scope>BENPR</scope><scope>BTHHO</scope><scope>CCPQU</scope><scope>FYUFA</scope><scope>GHDGH</scope><scope>K9.</scope><scope>M0S</scope><scope>M1P</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>PRINS</scope><scope>7X8</scope><scope>5PM</scope></search><sort><creationdate>20030501</creationdate><title>Novel corneal features in two males with incontinentia pigmenti</title><author>Mayer, E J ; Shuttleworth, G N ; Greenhalgh, K L ; Sansom, J E ; Grey, R H B ; Kenwrick, S</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-b585t-6bf38d340dac231e3dd2090e6181231702e60f0f23f24e027210042998fd6f2f3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2003</creationdate><topic>Apoptosis</topic><topic>Biological and medical sciences</topic><topic>Cataracts</topic><topic>Child</topic><topic>Congenital diseases</topic><topic>cornea</topic><topic>Cornea - pathology</topic><topic>Diseases of cornea, anterior segment and sclera</topic><topic>Eye diseases</topic><topic>Fibroblasts</topic><topic>Fluorescein Angiography</topic><topic>Gene Deletion</topic><topic>Genetic aspects</topic><topic>Humans</topic><topic>incontinentia pigmenti</topic><topic>Incontinentia Pigmenti - genetics</topic><topic>Incontinentia Pigmenti - pathology</topic><topic>Incontinentia Pigmenti - physiopathology</topic><topic>Infant</topic><topic>Inflammation</topic><topic>Male</topic><topic>Males</topic><topic>Medical sciences</topic><topic>mosaic</topic><topic>Mutation</topic><topic>Mutation - genetics</topic><topic>Nervous system</topic><topic>Ophthalmology</topic><topic>retina</topic><topic>Retina - pathology</topic><topic>Scientific Correspondence</topic><topic>Skin</topic><topic>Visual Acuity - physiology</topic><topic>Vitreous Hemorrhage - etiology</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Mayer, E J</creatorcontrib><creatorcontrib>Shuttleworth, G N</creatorcontrib><creatorcontrib>Greenhalgh, K L</creatorcontrib><creatorcontrib>Sansom, J E</creatorcontrib><creatorcontrib>Grey, R H B</creatorcontrib><creatorcontrib>Kenwrick, S</creatorcontrib><collection>Istex</collection><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 Central (Corporate)</collection><collection>Health & Medical Collection</collection><collection>ProQuest Central (purchase pre-March 2016)</collection><collection>Medical Database (Alumni Edition)</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</collection><collection>BMJ Journals</collection><collection>ProQuest One Community College</collection><collection>Health Research Premium Collection</collection><collection>Health Research Premium Collection (Alumni)</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>Health & Medical Collection (Alumni Edition)</collection><collection>Medical 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>ProQuest Central China</collection><collection>MEDLINE - Academic</collection><collection>PubMed Central (Full Participant titles)</collection><jtitle>British journal of ophthalmology</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Mayer, E J</au><au>Shuttleworth, G N</au><au>Greenhalgh, K L</au><au>Sansom, J E</au><au>Grey, R H B</au><au>Kenwrick, S</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Novel corneal features in two males with incontinentia pigmenti</atitle><jtitle>British journal of ophthalmology</jtitle><addtitle>Br J Ophthalmol</addtitle><date>2003-05-01</date><risdate>2003</risdate><volume>87</volume><issue>5</issue><spage>554</spage><epage>556</epage><pages>554-556</pages><issn>0007-1161</issn><eissn>1468-2079</eissn><coden>BJOPAL</coden><abstract>Incontinentia pigmenti (IP) is a rare X linked genetic disorder, which predominantly affects females. The mutations are usually lethal in males. Two male cases are presented; a genetic mosaic for the common IP deletion and another in whom the genetic abnormality has not yet been characterised. Emphasis is placed on the ocular features present in this disorder and in particular a novel corneal feature and its possible aetiology.</abstract><cop>BMA House, Tavistock Square, London, WC1H 9JR</cop><pub>BMJ Publishing Group Ltd</pub><pmid>12714390</pmid><doi>10.1136/bjo.87.5.554</doi><tpages>3</tpages><oa>free_for_read</oa></addata></record> |
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| subjects | Apoptosis Biological and medical sciences Cataracts Child Congenital diseases cornea Cornea - pathology Diseases of cornea, anterior segment and sclera Eye diseases Fibroblasts Fluorescein Angiography Gene Deletion Genetic aspects Humans incontinentia pigmenti Incontinentia Pigmenti - genetics Incontinentia Pigmenti - pathology Incontinentia Pigmenti - physiopathology Infant Inflammation Male Males Medical sciences mosaic Mutation Mutation - genetics Nervous system Ophthalmology retina Retina - pathology Scientific Correspondence Skin Visual Acuity - physiology Vitreous Hemorrhage - etiology |
| title | Novel corneal features in two males with incontinentia pigmenti |
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