Bilateral keratoconus with oculocutaneous albinism
[1] Albinism, a genetically determined heterogeneous group of disorders involving hypopigmentation of the skin, eyes, hair (oculocutaneous albinism) or the eyes alone (ocular albinism), occurs primarily due to a deficiency of tyrosinase, which mediates the conversion of tyrosine to melanin. On ophth...
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| Veröffentlicht in: | Indian journal of dermatology, venereology, and leprology venereology, and leprology, 2008-07, Vol.74 (4), p.407 |
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| container_title | Indian journal of dermatology, venereology, and leprology |
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| creator | Rao, Vasudev Anand Swathi, P Chaitra Thappa, Devinder Mohan |
| description | [1] Albinism, a genetically determined heterogeneous group of disorders involving hypopigmentation of the skin, eyes, hair (oculocutaneous albinism) or the eyes alone (ocular albinism), occurs primarily due to a deficiency of tyrosinase, which mediates the conversion of tyrosine to melanin. On ophthalmological examination, both eyes were found to have visual acuity (she was able to see the number of fingers held close to her face) with accurate projection of rays, horizontal pendular nystagmus, and a positive Munson's sign (tenting of the lower lid during a downward gaze) [Figure 2]. |
| doi_str_mv | 10.4103/0378-6323.42929 |
| format | Article |
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On ophthalmological examination, both eyes were found to have visual acuity (she was able to see the number of fingers held close to her face) with accurate projection of rays, horizontal pendular nystagmus, and a positive Munson's sign (tenting of the lower lid during a downward gaze) [Figure 2].</description><identifier>ISSN: 0378-6323</identifier><identifier>EISSN: 0973-3922</identifier><identifier>EISSN: 1998-3611</identifier><identifier>DOI: 10.4103/0378-6323.42929</identifier><identifier>PMID: 18797083</identifier><language>eng</language><publisher>India: Medknow Publications on behalf of The Indian Association of Dermatologists, Venereologists and Leprologists (IADVL)</publisher><subject>Albinism ; Albinism, Oculocutaneous - complications ; Care and treatment ; Case studies ; Cataract - complications ; Diagnosis ; Dosage and administration ; Eyes & eyesight ; Female ; Humans ; Keratoconus ; Keratoconus - complications ; Keratoconus - pathology ; Medical treatment ; Melanin ; Middle Aged ; Myopia ; Patient outcomes ; Physical examinations ; Risk factors</subject><ispartof>Indian journal of dermatology, venereology, and leprology, 2008-07, Vol.74 (4), p.407</ispartof><rights>Copyright 2008 Indian Journal of Dermatology, Venereology and Leprology.</rights><rights>COPYRIGHT 2008 Medknow Publications and Media Pvt. Ltd.</rights><rights>Copyright Medknow Publications Jul/Aug 2008</rights><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-b479t-9ba001277efddec9310a84ef59bfa19452022fcc431c14cda2c51edd6e5639143</citedby></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,776,780,27901,27902,79169</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/18797083$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Rao, Vasudev Anand</creatorcontrib><creatorcontrib>Swathi, P</creatorcontrib><creatorcontrib>Chaitra</creatorcontrib><creatorcontrib>Thappa, Devinder Mohan</creatorcontrib><creatorcontrib>Chaitra</creatorcontrib><title>Bilateral keratoconus with oculocutaneous albinism</title><title>Indian journal of dermatology, venereology, and leprology</title><addtitle>Indian J Dermatol Venereol Leprol</addtitle><description>[1] Albinism, a genetically determined heterogeneous group of disorders involving hypopigmentation of the skin, eyes, hair (oculocutaneous albinism) or the eyes alone (ocular albinism), occurs primarily due to a deficiency of tyrosinase, which mediates the conversion of tyrosine to melanin. On ophthalmological examination, both eyes were found to have visual acuity (she was able to see the number of fingers held close to her face) with accurate projection of rays, horizontal pendular nystagmus, and a positive Munson's sign (tenting of the lower lid during a downward gaze) [Figure 2].</description><subject>Albinism</subject><subject>Albinism, Oculocutaneous - complications</subject><subject>Care and treatment</subject><subject>Case studies</subject><subject>Cataract - complications</subject><subject>Diagnosis</subject><subject>Dosage and administration</subject><subject>Eyes & eyesight</subject><subject>Female</subject><subject>Humans</subject><subject>Keratoconus</subject><subject>Keratoconus - complications</subject><subject>Keratoconus - pathology</subject><subject>Medical treatment</subject><subject>Melanin</subject><subject>Middle Aged</subject><subject>Myopia</subject><subject>Patient outcomes</subject><subject>Physical examinations</subject><subject>Risk factors</subject><issn>0378-6323</issn><issn>0973-3922</issn><issn>1998-3611</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2008</creationdate><recordtype>article</recordtype><sourceid>RBI</sourceid><sourceid>EIF</sourceid><sourceid>8G5</sourceid><sourceid>BENPR</sourceid><sourceid>GUQSH</sourceid><sourceid>M2O</sourceid><recordid>eNptkclPAyEYxYnRuJ-9mcaDt6ls04GjNm6JiRc9E4b5xqIUFBiN_73U1i0xrHn8HvDlIXRA8JgTzE4wa0Q1YZSNOZVUrqFtLBtWMUnpetl_nW6hnZQeMaZ8wsgm2iKikQ0WbBvRM-t0hqjd6KnMOZjghzR6s3k2CmZwZWTtIRRNu9Z6m-Z7aKPXLsH-at1F9xfnd9Or6ub28np6elO1vJG5kq3GmNCmgb7rwEhGsBYc-lq2vSaS1xRT2hvDGTGEm05TUxPougnUEyYJZ7voaHnvcwwvA6SsHsMQfXlSEVljwRmXBaqW0IN2oKzvQ47aPIBflBQ89LbIp0TUlAnGaeHH__CldTC35l_D8S_DDLTLsxTckG3w6S94sgRNDClF6NVztHMd3xXBahGWWsShFnGoz7CK43BV4NDOofvhV-n8fLa1wVkP34SJVqsvsXstHQsiKPsAjFmdyA</recordid><startdate>20080701</startdate><enddate>20080701</enddate><creator>Rao, Vasudev Anand</creator><creator>Swathi, P</creator><creator>Chaitra</creator><creator>Thappa, Devinder Mohan</creator><general>Medknow Publications on behalf of The Indian Association of Dermatologists, Venereologists and Leprologists (IADVL)</general><general>Medknow Publications and Media Pvt. 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complications</topic><topic>Care and treatment</topic><topic>Case studies</topic><topic>Cataract - complications</topic><topic>Diagnosis</topic><topic>Dosage and administration</topic><topic>Eyes & eyesight</topic><topic>Female</topic><topic>Humans</topic><topic>Keratoconus</topic><topic>Keratoconus - complications</topic><topic>Keratoconus - pathology</topic><topic>Medical treatment</topic><topic>Melanin</topic><topic>Middle Aged</topic><topic>Myopia</topic><topic>Patient outcomes</topic><topic>Physical examinations</topic><topic>Risk factors</topic><toplevel>online_resources</toplevel><creatorcontrib>Rao, Vasudev Anand</creatorcontrib><creatorcontrib>Swathi, P</creatorcontrib><creatorcontrib>Chaitra</creatorcontrib><creatorcontrib>Thappa, Devinder Mohan</creatorcontrib><creatorcontrib>Chaitra</creatorcontrib><collection>Bioline International</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>Research Library (Alumni Edition)</collection><collection>ProQuest Central (Alumni Edition)</collection><collection>ProQuest Central UK/Ireland</collection><collection>ProQuest Central Essentials</collection><collection>ProQuest Central</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>Research Library Prep</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>Health & Medical Collection (Alumni Edition)</collection><collection>Medical Database</collection><collection>Research Library</collection><collection>Research Library (Corporate)</collection><collection>Publicly Available Content 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>ProQuest Central Basic</collection><jtitle>Indian journal of dermatology, venereology, and leprology</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Rao, Vasudev Anand</au><au>Swathi, P</au><au>Chaitra</au><au>Thappa, Devinder Mohan</au><aucorp>Chaitra</aucorp><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Bilateral keratoconus with oculocutaneous albinism</atitle><jtitle>Indian journal of dermatology, venereology, and leprology</jtitle><addtitle>Indian J Dermatol Venereol Leprol</addtitle><date>2008-07-01</date><risdate>2008</risdate><volume>74</volume><issue>4</issue><spage>407</spage><pages>407-</pages><issn>0378-6323</issn><eissn>0973-3922</eissn><eissn>1998-3611</eissn><abstract>[1] Albinism, a genetically determined heterogeneous group of disorders involving hypopigmentation of the skin, eyes, hair (oculocutaneous albinism) or the eyes alone (ocular albinism), occurs primarily due to a deficiency of tyrosinase, which mediates the conversion of tyrosine to melanin. 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| identifier | ISSN: 0378-6323 |
| ispartof | Indian journal of dermatology, venereology, and leprology, 2008-07, Vol.74 (4), p.407 |
| issn | 0378-6323 0973-3922 1998-3611 |
| language | eng |
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| source | MEDLINE; Bioline International; Elektronische Zeitschriftenbibliothek - Frei zugängliche E-Journals |
| subjects | Albinism Albinism, Oculocutaneous - complications Care and treatment Case studies Cataract - complications Diagnosis Dosage and administration Eyes & eyesight Female Humans Keratoconus Keratoconus - complications Keratoconus - pathology Medical treatment Melanin Middle Aged Myopia Patient outcomes Physical examinations Risk factors |
| title | Bilateral keratoconus with oculocutaneous albinism |
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