Congenital cataract in a child with pyridoxine-dependent epilepsy
Pyridoxine-dependent epilepsy (PDE) is a cause of neonatal epileptic encephalopathy not previously known to cause ophthalmic disease. We describe the novel observation of a 5-year-old girl with pyridoxine-dependent epilepsy and bilateral cataracts. PDE is the result of mutations in the ALDH7A1 gene...
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| Veröffentlicht in: | Journal of AAPOS 2013-06, Vol.17 (3), p.315-317 |
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| creator | Yusuf, Imran H., MB ChB (Hons), MRes, MRCP (UK) Sandford, Victoria, BSc Hildebrand, Göran Darius, MD, FRCS, FRCOphth |
| description | Pyridoxine-dependent epilepsy (PDE) is a cause of neonatal epileptic encephalopathy not previously known to cause ophthalmic disease. We describe the novel observation of a 5-year-old girl with pyridoxine-dependent epilepsy and bilateral cataracts. PDE is the result of mutations in the ALDH7A1 gene encoding antiquitin, an enzyme protective against cellular dehydration and osmotic stress. Accumulating metabolic precursors in PDE have been shown to be cataractogenic in vitro, and experimental pyridoxine deficiency has been associated with lenticular opacities in vivo. The association of ALDH7A1 haploinsufficiency in PDE and congenital cataract may offer insight into the relationship between osmotic stress and fetal cataract development. Bilateral progression of cataracts in this child suggests ongoing metabolic dysregulation within the crystalline lens despite pyridoxine supplementation at doses sufficient to control seizure activity. |
| doi_str_mv | 10.1016/j.jaapos.2013.01.006 |
| format | Article |
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We describe the novel observation of a 5-year-old girl with pyridoxine-dependent epilepsy and bilateral cataracts. PDE is the result of mutations in the ALDH7A1 gene encoding antiquitin, an enzyme protective against cellular dehydration and osmotic stress. Accumulating metabolic precursors in PDE have been shown to be cataractogenic in vitro, and experimental pyridoxine deficiency has been associated with lenticular opacities in vivo. The association of ALDH7A1 haploinsufficiency in PDE and congenital cataract may offer insight into the relationship between osmotic stress and fetal cataract development. Bilateral progression of cataracts in this child suggests ongoing metabolic dysregulation within the crystalline lens despite pyridoxine supplementation at doses sufficient to control seizure activity.</description><identifier>ISSN: 1091-8531</identifier><identifier>EISSN: 1528-3933</identifier><identifier>DOI: 10.1016/j.jaapos.2013.01.006</identifier><identifier>PMID: 23602455</identifier><language>eng</language><publisher>United States: Mosby, Inc</publisher><subject>Aldehyde Dehydrogenase - genetics ; Cataract - congenital ; Cataract - diagnosis ; Child, Preschool ; Disease Progression ; Epilepsy - drug therapy ; Epilepsy - genetics ; Female ; Humans ; Mutation ; Ophthalmology ; Pyridoxine - therapeutic use ; Visual Acuity ; Vitamin B Complex - therapeutic use</subject><ispartof>Journal of AAPOS, 2013-06, Vol.17 (3), p.315-317</ispartof><rights>American Association for Pediatric Ophthalmology and Strabismus</rights><rights>2013 American Association for Pediatric Ophthalmology and Strabismus</rights><rights>Copyright © 2013 American Association for Pediatric Ophthalmology and Strabismus. 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We describe the novel observation of a 5-year-old girl with pyridoxine-dependent epilepsy and bilateral cataracts. PDE is the result of mutations in the ALDH7A1 gene encoding antiquitin, an enzyme protective against cellular dehydration and osmotic stress. Accumulating metabolic precursors in PDE have been shown to be cataractogenic in vitro, and experimental pyridoxine deficiency has been associated with lenticular opacities in vivo. The association of ALDH7A1 haploinsufficiency in PDE and congenital cataract may offer insight into the relationship between osmotic stress and fetal cataract development. Bilateral progression of cataracts in this child suggests ongoing metabolic dysregulation within the crystalline lens despite pyridoxine supplementation at doses sufficient to control seizure activity.</description><subject>Aldehyde Dehydrogenase - genetics</subject><subject>Cataract - congenital</subject><subject>Cataract - diagnosis</subject><subject>Child, Preschool</subject><subject>Disease Progression</subject><subject>Epilepsy - drug therapy</subject><subject>Epilepsy - genetics</subject><subject>Female</subject><subject>Humans</subject><subject>Mutation</subject><subject>Ophthalmology</subject><subject>Pyridoxine - therapeutic use</subject><subject>Visual Acuity</subject><subject>Vitamin B Complex - therapeutic use</subject><issn>1091-8531</issn><issn>1528-3933</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2013</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqFkU1v1DAQhi0Eoh_wD1CVI5ekM3bixJdK1QpopUocgLPl2BPqkHVSO1vYf49XW3rg0pPn8Mw78vMy9gGhQkB5OVajMcucKg4oKsAKQL5ip9jwrhRKiNd5BoVl1wg8YWcpjZAJhfiWnXAhgddNc8quN3P4ScGvZiqsWU00di18KExh7_3kit9-vS-WffRu_uMDlY4WCo7CWtDiJ1rS_h17M5gp0fun95z9-Pzp--amvPv65XZzfVfaGtu17KFWddMpYUzbWSl6q4CcFE4QcNli10uAFuuhq_teDXKAAaxoaqsaJ4ZWinP28Zi7xPlhR2nVW58sTZMJNO-SRtEib4ErntH6iNo4pxRp0Ev0WxP3GkEf5OlRH-XpgzwNqLOavHbxdGHXb8k9L_2zlYGrI0D5n4-eok7WU7DkfCS7ajf7ly78H2AnH7w10y_aUxrnXQzZoUaduAb97VDgoT8UuTuVA_4CepOV0w</recordid><startdate>20130601</startdate><enddate>20130601</enddate><creator>Yusuf, Imran H., MB ChB (Hons), MRes, MRCP (UK)</creator><creator>Sandford, Victoria, BSc</creator><creator>Hildebrand, Göran Darius, MD, FRCS, FRCOphth</creator><general>Mosby, Inc</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></search><sort><creationdate>20130601</creationdate><title>Congenital cataract in a child with pyridoxine-dependent epilepsy</title><author>Yusuf, Imran H., MB ChB (Hons), MRes, MRCP (UK) ; Sandford, Victoria, BSc ; Hildebrand, Göran Darius, MD, FRCS, FRCOphth</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c417t-b04945893aa78c63bc90ed63d3e026718b600714f84bb9f6f0f0c354c95d3f763</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2013</creationdate><topic>Aldehyde Dehydrogenase - genetics</topic><topic>Cataract - congenital</topic><topic>Cataract - diagnosis</topic><topic>Child, Preschool</topic><topic>Disease Progression</topic><topic>Epilepsy - drug therapy</topic><topic>Epilepsy - genetics</topic><topic>Female</topic><topic>Humans</topic><topic>Mutation</topic><topic>Ophthalmology</topic><topic>Pyridoxine - therapeutic use</topic><topic>Visual Acuity</topic><topic>Vitamin B Complex - therapeutic use</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Yusuf, Imran H., MB ChB (Hons), MRes, MRCP (UK)</creatorcontrib><creatorcontrib>Sandford, Victoria, BSc</creatorcontrib><creatorcontrib>Hildebrand, Göran Darius, MD, FRCS, FRCOphth</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><jtitle>Journal of AAPOS</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Yusuf, Imran H., MB ChB (Hons), MRes, MRCP (UK)</au><au>Sandford, Victoria, BSc</au><au>Hildebrand, Göran Darius, MD, FRCS, FRCOphth</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Congenital cataract in a child with pyridoxine-dependent epilepsy</atitle><jtitle>Journal of AAPOS</jtitle><addtitle>J AAPOS</addtitle><date>2013-06-01</date><risdate>2013</risdate><volume>17</volume><issue>3</issue><spage>315</spage><epage>317</epage><pages>315-317</pages><issn>1091-8531</issn><eissn>1528-3933</eissn><abstract>Pyridoxine-dependent epilepsy (PDE) is a cause of neonatal epileptic encephalopathy not previously known to cause ophthalmic disease. We describe the novel observation of a 5-year-old girl with pyridoxine-dependent epilepsy and bilateral cataracts. PDE is the result of mutations in the ALDH7A1 gene encoding antiquitin, an enzyme protective against cellular dehydration and osmotic stress. Accumulating metabolic precursors in PDE have been shown to be cataractogenic in vitro, and experimental pyridoxine deficiency has been associated with lenticular opacities in vivo. The association of ALDH7A1 haploinsufficiency in PDE and congenital cataract may offer insight into the relationship between osmotic stress and fetal cataract development. Bilateral progression of cataracts in this child suggests ongoing metabolic dysregulation within the crystalline lens despite pyridoxine supplementation at doses sufficient to control seizure activity.</abstract><cop>United States</cop><pub>Mosby, Inc</pub><pmid>23602455</pmid><doi>10.1016/j.jaapos.2013.01.006</doi><tpages>3</tpages></addata></record> |
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| ispartof | Journal of AAPOS, 2013-06, Vol.17 (3), p.315-317 |
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| subjects | Aldehyde Dehydrogenase - genetics Cataract - congenital Cataract - diagnosis Child, Preschool Disease Progression Epilepsy - drug therapy Epilepsy - genetics Female Humans Mutation Ophthalmology Pyridoxine - therapeutic use Visual Acuity Vitamin B Complex - therapeutic use |
| title | Congenital cataract in a child with pyridoxine-dependent epilepsy |
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