Ocular Abnormalities in Mucolipidosis Iv
Systemic findings in a 23-year-old white man with mucolipidosis type IV included early delayed psychomotor development, mental retardation, and mild facial dysplasia. There was urinary excretion of chondroitin sulfate. Ophthalmologic examination showed corneal haze, pigmentary retinopathy, and sever...
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| Veröffentlicht in: | American journal of ophthalmology 1985-02, Vol.99 (2), p.125-136 |
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| container_title | American journal of ophthalmology |
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| creator | Riedel, K.G. Zwaan, J. Kenyon, K.R. Kolodny, E.H. Hanninen, L. Albert, D.M. |
| description | Systemic findings in a 23-year-old white man with mucolipidosis type IV included early delayed psychomotor development, mental retardation, and mild facial dysplasia. There was urinary excretion of chondroitin sulfate. Ophthalmologic examination showed corneal haze, pigmentary retinopathy, and severe optic atrophy. Light microscopy showed massively engorged superficial and intermediate epithelial cells of both the cornea and the conjunctiva. By transmission electron microscopy these contained fine granular material consistent with acid mucopolysaccharide and concentric lamellar bodies presumably representing phospholipids. This storage phenomenon was also found in macrophages, plasma cells, ciliary epithelial cells, Schwann cells, retinal ganglion cells, and vascular endothelial cells. Light microscopy also disclosed early cataract formation, marked outer retinal degeneration, and optic atrophy. |
| doi_str_mv | 10.1016/0002-9394(85)90220-X |
| format | Article |
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There was urinary excretion of chondroitin sulfate. Ophthalmologic examination showed corneal haze, pigmentary retinopathy, and severe optic atrophy. Light microscopy showed massively engorged superficial and intermediate epithelial cells of both the cornea and the conjunctiva. By transmission electron microscopy these contained fine granular material consistent with acid mucopolysaccharide and concentric lamellar bodies presumably representing phospholipids. This storage phenomenon was also found in macrophages, plasma cells, ciliary epithelial cells, Schwann cells, retinal ganglion cells, and vascular endothelial cells. 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There was urinary excretion of chondroitin sulfate. Ophthalmologic examination showed corneal haze, pigmentary retinopathy, and severe optic atrophy. Light microscopy showed massively engorged superficial and intermediate epithelial cells of both the cornea and the conjunctiva. By transmission electron microscopy these contained fine granular material consistent with acid mucopolysaccharide and concentric lamellar bodies presumably representing phospholipids. This storage phenomenon was also found in macrophages, plasma cells, ciliary epithelial cells, Schwann cells, retinal ganglion cells, and vascular endothelial cells. Light microscopy also disclosed early cataract formation, marked outer retinal degeneration, and optic atrophy.</description><subject>Adult</subject><subject>Biological and medical sciences</subject><subject>Chondroitin Sulfates - urine</subject><subject>Conjunctiva - ultrastructure</subject><subject>Corneal Opacity - complications</subject><subject>Corneal Opacity - pathology</subject><subject>Errors of metabolism</subject><subject>Face - abnormalities</subject><subject>Humans</subject><subject>Intellectual Disability - complications</subject><subject>Lipids (lysosomal enzyme disorders, storage diseases)</subject><subject>Male</subject><subject>Medical sciences</subject><subject>Metabolic diseases</subject><subject>Microscopy, Electron</subject><subject>Mucolipidoses - complications</subject><subject>Optic Atrophy - complications</subject><subject>Psychomotor Disorders - complications</subject><subject>Retinal Degeneration - complications</subject><subject>Retinal Degeneration - pathology</subject><subject>Retinal Ganglion Cells - ultrastructure</subject><issn>0002-9394</issn><issn>1879-1891</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1985</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNp9kE1LAzEQhoMotVb_gcIeROphNZOPTXIRSvGjUOmlh95CNpuFyH7UpFvw37u1S4-eZoZ53peZF6FbwE-AIXvGGJNUUcWmkj8qTAhON2doDFKoFKSCczQ-IZfoKsavfswEEyM0ogok43SMpivbVSYks7xpQ20qv_MuJr5JPjvbVn7rizb6mCz21-iiNFV0N0OdoPXb63r-kS5X74v5bJlaKrNdShguiMgy4zhgpnJbFqXlfU8kFECsYTkligrpjCBgiMFgC5ZDTjC3JaMT9HC03Yb2u3Nxp2sfrasq07i2i1pwJThQ0YPsCNrQxhhcqbfB1yb8aMD6kI8-PK8Pz2vJ9V8-etPL7gb_Lq9dcRINgfT7-2FvojVVGUxjfTxhCoMEwnvs5Yi5Poq9d0FH611jXeGDsztdtP7_O34BSdN_dg</recordid><startdate>19850215</startdate><enddate>19850215</enddate><creator>Riedel, K.G.</creator><creator>Zwaan, J.</creator><creator>Kenyon, K.R.</creator><creator>Kolodny, E.H.</creator><creator>Hanninen, L.</creator><creator>Albert, D.M.</creator><general>Elsevier Inc</general><general>Elsevier</general><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>7X8</scope></search><sort><creationdate>19850215</creationdate><title>Ocular Abnormalities in Mucolipidosis Iv</title><author>Riedel, K.G. ; Zwaan, J. ; Kenyon, K.R. ; Kolodny, E.H. ; Hanninen, L. ; Albert, D.M.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c386t-240d2766ae51049bcfdfc5510281d12ca4b329378ea721a2a01cd4b1b205cf43</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>1985</creationdate><topic>Adult</topic><topic>Biological and medical sciences</topic><topic>Chondroitin Sulfates - urine</topic><topic>Conjunctiva - ultrastructure</topic><topic>Corneal Opacity - complications</topic><topic>Corneal Opacity - pathology</topic><topic>Errors of metabolism</topic><topic>Face - abnormalities</topic><topic>Humans</topic><topic>Intellectual Disability - complications</topic><topic>Lipids (lysosomal enzyme disorders, storage diseases)</topic><topic>Male</topic><topic>Medical sciences</topic><topic>Metabolic diseases</topic><topic>Microscopy, Electron</topic><topic>Mucolipidoses - complications</topic><topic>Optic Atrophy - complications</topic><topic>Psychomotor Disorders - complications</topic><topic>Retinal Degeneration - complications</topic><topic>Retinal Degeneration - pathology</topic><topic>Retinal Ganglion Cells - ultrastructure</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Riedel, K.G.</creatorcontrib><creatorcontrib>Zwaan, J.</creatorcontrib><creatorcontrib>Kenyon, K.R.</creatorcontrib><creatorcontrib>Kolodny, E.H.</creatorcontrib><creatorcontrib>Hanninen, L.</creatorcontrib><creatorcontrib>Albert, D.M.</creatorcontrib><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>MEDLINE - Academic</collection><jtitle>American journal of ophthalmology</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Riedel, K.G.</au><au>Zwaan, J.</au><au>Kenyon, K.R.</au><au>Kolodny, E.H.</au><au>Hanninen, L.</au><au>Albert, D.M.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Ocular Abnormalities in Mucolipidosis Iv</atitle><jtitle>American journal of ophthalmology</jtitle><addtitle>Am J Ophthalmol</addtitle><date>1985-02-15</date><risdate>1985</risdate><volume>99</volume><issue>2</issue><spage>125</spage><epage>136</epage><pages>125-136</pages><issn>0002-9394</issn><eissn>1879-1891</eissn><coden>AJOPAA</coden><abstract>Systemic findings in a 23-year-old white man with mucolipidosis type IV included early delayed psychomotor development, mental retardation, and mild facial dysplasia. There was urinary excretion of chondroitin sulfate. Ophthalmologic examination showed corneal haze, pigmentary retinopathy, and severe optic atrophy. Light microscopy showed massively engorged superficial and intermediate epithelial cells of both the cornea and the conjunctiva. By transmission electron microscopy these contained fine granular material consistent with acid mucopolysaccharide and concentric lamellar bodies presumably representing phospholipids. This storage phenomenon was also found in macrophages, plasma cells, ciliary epithelial cells, Schwann cells, retinal ganglion cells, and vascular endothelial cells. Light microscopy also disclosed early cataract formation, marked outer retinal degeneration, and optic atrophy.</abstract><cop>New York, NY</cop><pub>Elsevier Inc</pub><pmid>3918453</pmid><doi>10.1016/0002-9394(85)90220-X</doi><tpages>12</tpages></addata></record> |
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| ispartof | American journal of ophthalmology, 1985-02, Vol.99 (2), p.125-136 |
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| subjects | Adult Biological and medical sciences Chondroitin Sulfates - urine Conjunctiva - ultrastructure Corneal Opacity - complications Corneal Opacity - pathology Errors of metabolism Face - abnormalities Humans Intellectual Disability - complications Lipids (lysosomal enzyme disorders, storage diseases) Male Medical sciences Metabolic diseases Microscopy, Electron Mucolipidoses - complications Optic Atrophy - complications Psychomotor Disorders - complications Retinal Degeneration - complications Retinal Degeneration - pathology Retinal Ganglion Cells - ultrastructure |
| title | Ocular Abnormalities in Mucolipidosis Iv |
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