Achondroplasia and Macular Coloboma
Achondroplasia is an autosomal dominant congenital disorder of enchondral ossification. It is clinically characterized by low stature, craniofacial deformity, and vertebral malformation. Associated ophthalmic features include telecanthus, exotropia, angle anomalies, and cone-rod dystrophy. A 24-year...
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| Veröffentlicht in: | Middle East African journal of ophthalmology 2015-10, Vol.22 (4), p.522-524 |
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| creator | Ahoor, M H Amizadeh, Y Sorkhabi, R |
| description | Achondroplasia is an autosomal dominant congenital disorder of enchondral ossification. It is clinically characterized by low stature, craniofacial deformity, and vertebral malformation. Associated ophthalmic features include telecanthus, exotropia, angle anomalies, and cone-rod dystrophy. A 24-year-old male presented with decreased vision bilaterally and typical achondroplasia. The best corrected visual acuity was 20/70 in both eyes. Anterior segment examination was normal. Fundus examination revealed a well-demarcated circular paramacular lesion in both eyes. As macular coloboma and achondroplasia are developmental disorders, the funduscopic examination is required in patients with achondroplasia. |
| doi_str_mv | 10.4103/0974-9233.167819 |
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It is clinically characterized by low stature, craniofacial deformity, and vertebral malformation. Associated ophthalmic features include telecanthus, exotropia, angle anomalies, and cone-rod dystrophy. A 24-year-old male presented with decreased vision bilaterally and typical achondroplasia. The best corrected visual acuity was 20/70 in both eyes. Anterior segment examination was normal. Fundus examination revealed a well-demarcated circular paramacular lesion in both eyes. As macular coloboma and achondroplasia are developmental disorders, the funduscopic examination is required in patients with achondroplasia.</description><identifier>ISSN: 0974-9233</identifier><identifier>ISSN: 0975-1599</identifier><identifier>EISSN: 0975-1599</identifier><identifier>EISSN: 0974-9233</identifier><identifier>DOI: 10.4103/0974-9233.167819</identifier><identifier>PMID: 26692730</identifier><language>eng</language><publisher>India: Medknow Publications and Media Pvt. Ltd</publisher><subject>Achondroplasia ; Achondroplasia - complications ; Achondroplasia - diagnosis ; Achondroplasia - physiopathology ; Care and treatment ; Case Report ; Case studies ; Coloboma ; Coloboma - complications ; Coloboma - diagnosis ; Coloboma - physiopathology ; Craniofacial Abnormalities - diagnosis ; Diagnosis ; Fluorescein Angiography ; Glaucoma ; Humans ; Macula Lutea - abnormalities ; Macula Lutea - physiopathology ; Male ; Medical imaging ; Ophthalmoscopy ; Patient outcomes ; Risk factors ; Tomography, Optical Coherence ; Vision Disorders - diagnosis ; Visual Acuity - physiology ; Young Adult</subject><ispartof>Middle East African journal of ophthalmology, 2015-10, Vol.22 (4), p.522-524</ispartof><rights>COPYRIGHT 2015 Medknow Publications and Media Pvt. Ltd.</rights><rights>Copyright Medknow Publications & Media Pvt Ltd Oct-Dec 2015</rights><rights>Copyright: © Middle East African Journal of Ophthalmology 2015</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c522t-cfa21ae95e19601582db01b76e911033383dd593ef046bc00c03a1c22e5b09363</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/PMC4660545/pdf/$$EPDF$$P50$$Gpubmedcentral$$Hfree_for_read</linktopdf><linktohtml>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC4660545/$$EHTML$$P50$$Gpubmedcentral$$Hfree_for_read</linktohtml><link.rule.ids>230,314,727,780,784,885,27924,27925,53791,53793</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/26692730$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Ahoor, M H</creatorcontrib><creatorcontrib>Amizadeh, Y</creatorcontrib><creatorcontrib>Sorkhabi, R</creatorcontrib><title>Achondroplasia and Macular Coloboma</title><title>Middle East African journal of ophthalmology</title><addtitle>Middle East Afr J Ophthalmol</addtitle><description>Achondroplasia is an autosomal dominant congenital disorder of enchondral ossification. It is clinically characterized by low stature, craniofacial deformity, and vertebral malformation. Associated ophthalmic features include telecanthus, exotropia, angle anomalies, and cone-rod dystrophy. A 24-year-old male presented with decreased vision bilaterally and typical achondroplasia. The best corrected visual acuity was 20/70 in both eyes. Anterior segment examination was normal. Fundus examination revealed a well-demarcated circular paramacular lesion in both eyes. As macular coloboma and achondroplasia are developmental disorders, the funduscopic examination is required in patients with achondroplasia.</description><subject>Achondroplasia</subject><subject>Achondroplasia - complications</subject><subject>Achondroplasia - diagnosis</subject><subject>Achondroplasia - physiopathology</subject><subject>Care and treatment</subject><subject>Case Report</subject><subject>Case studies</subject><subject>Coloboma</subject><subject>Coloboma - complications</subject><subject>Coloboma - diagnosis</subject><subject>Coloboma - physiopathology</subject><subject>Craniofacial Abnormalities - diagnosis</subject><subject>Diagnosis</subject><subject>Fluorescein Angiography</subject><subject>Glaucoma</subject><subject>Humans</subject><subject>Macula Lutea - abnormalities</subject><subject>Macula Lutea - physiopathology</subject><subject>Male</subject><subject>Medical imaging</subject><subject>Ophthalmoscopy</subject><subject>Patient outcomes</subject><subject>Risk factors</subject><subject>Tomography, Optical Coherence</subject><subject>Vision Disorders - diagnosis</subject><subject>Visual Acuity - physiology</subject><subject>Young Adult</subject><issn>0974-9233</issn><issn>0975-1599</issn><issn>0975-1599</issn><issn>0974-9233</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2015</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><sourceid>8G5</sourceid><sourceid>ABUWG</sourceid><sourceid>AFKRA</sourceid><sourceid>AZQEC</sourceid><sourceid>BENPR</sourceid><sourceid>CCPQU</sourceid><sourceid>DWQXO</sourceid><sourceid>GNUQQ</sourceid><sourceid>GUQSH</sourceid><sourceid>M2O</sourceid><recordid>eNptUk1PJCEQJWY3ama9ezKTmJi99GwBDd1cTCaT9SPR7GU9E5qmHQwNI3Sb-O-lHVcdsxACqXrvAa8KoWMMixID_QWiKgtBKF1gXtVY7KHDHGIFZkJ8ez1v0wfoKKUHmEYFFav30QHhXJCKwiE6Xep18G0MG6eSVXPl2_mt0qNTcb4KLjShVz_Q9065ZI7e9hm6u_j9d3VV3Py5vF4tbwrNCBkK3SmClRHMYMEBs5q0DeCm4kbg_F5Ka9q2TFDTQckbDaCBKqwJMawBQTmdofOt7mZsetNq44eonNxE26v4LIOycjfj7VrehydZcg6sZFng55tADI-jSYPsbdLGOeVNGJPEFcNlzWl2ZYZOv0Afwhh9_l5GEV5jntcH6l45I63vQr5XT6JyWVKSlUBARi3-g8qzNb3VwZvO5vgO4ewTYW2UG9YpuHGwwaddIGyBOoaUounezcAgpyaQU5XlVGW5bYJMOfls4jvhX8npC0Z7p1c</recordid><startdate>20151001</startdate><enddate>20151001</enddate><creator>Ahoor, M H</creator><creator>Amizadeh, Y</creator><creator>Sorkhabi, R</creator><general>Medknow Publications and Media Pvt. Ltd</general><general>Medknow Publications & Media Pvt. 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complications</topic><topic>Achondroplasia - diagnosis</topic><topic>Achondroplasia - physiopathology</topic><topic>Care and treatment</topic><topic>Case Report</topic><topic>Case studies</topic><topic>Coloboma</topic><topic>Coloboma - complications</topic><topic>Coloboma - diagnosis</topic><topic>Coloboma - physiopathology</topic><topic>Craniofacial Abnormalities - diagnosis</topic><topic>Diagnosis</topic><topic>Fluorescein Angiography</topic><topic>Glaucoma</topic><topic>Humans</topic><topic>Macula Lutea - abnormalities</topic><topic>Macula Lutea - physiopathology</topic><topic>Male</topic><topic>Medical imaging</topic><topic>Ophthalmoscopy</topic><topic>Patient outcomes</topic><topic>Risk factors</topic><topic>Tomography, Optical Coherence</topic><topic>Vision Disorders - diagnosis</topic><topic>Visual Acuity - physiology</topic><topic>Young Adult</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Ahoor, M H</creatorcontrib><creatorcontrib>Amizadeh, Y</creatorcontrib><creatorcontrib>Sorkhabi, R</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>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><collection>MEDLINE - Academic</collection><collection>PubMed Central (Full Participant titles)</collection><jtitle>Middle East African journal of ophthalmology</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Ahoor, M H</au><au>Amizadeh, Y</au><au>Sorkhabi, R</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Achondroplasia and Macular Coloboma</atitle><jtitle>Middle East African journal of ophthalmology</jtitle><addtitle>Middle East Afr J Ophthalmol</addtitle><date>2015-10-01</date><risdate>2015</risdate><volume>22</volume><issue>4</issue><spage>522</spage><epage>524</epage><pages>522-524</pages><issn>0974-9233</issn><issn>0975-1599</issn><eissn>0975-1599</eissn><eissn>0974-9233</eissn><abstract>Achondroplasia is an autosomal dominant congenital disorder of enchondral ossification. It is clinically characterized by low stature, craniofacial deformity, and vertebral malformation. Associated ophthalmic features include telecanthus, exotropia, angle anomalies, and cone-rod dystrophy. A 24-year-old male presented with decreased vision bilaterally and typical achondroplasia. The best corrected visual acuity was 20/70 in both eyes. Anterior segment examination was normal. Fundus examination revealed a well-demarcated circular paramacular lesion in both eyes. As macular coloboma and achondroplasia are developmental disorders, the funduscopic examination is required in patients with achondroplasia.</abstract><cop>India</cop><pub>Medknow Publications and Media Pvt. Ltd</pub><pmid>26692730</pmid><doi>10.4103/0974-9233.167819</doi><tpages>3</tpages><oa>free_for_read</oa></addata></record> |
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| subjects | Achondroplasia Achondroplasia - complications Achondroplasia - diagnosis Achondroplasia - physiopathology Care and treatment Case Report Case studies Coloboma Coloboma - complications Coloboma - diagnosis Coloboma - physiopathology Craniofacial Abnormalities - diagnosis Diagnosis Fluorescein Angiography Glaucoma Humans Macula Lutea - abnormalities Macula Lutea - physiopathology Male Medical imaging Ophthalmoscopy Patient outcomes Risk factors Tomography, Optical Coherence Vision Disorders - diagnosis Visual Acuity - physiology Young Adult |
| title | Achondroplasia and Macular Coloboma |
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