The lens in hereditary hyperferritinaemia cataract syndrome contains crystalline deposits of L-ferritin

BACKGROUND/AIM Hereditary hyperferritinaemia cataract syndrome (HHCS) is an autosomal dominant disorder characterised by elevated serum L-ferritin and bilateral cataracts. The ocular manifestations of this disorder are poorly studied. This study therefore sought to determine the origin of cataracts...

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Published in:British journal of ophthalmology 2000-07, Vol.84 (7), p.697-700
Main Authors: Mumford, Andrew D, Cree, Ian A, Arnold, Jayantha D, Hagan, Myles C, Rixon, Kenneth C, Harding, John J
Format: Article
Language:English
Subjects:
Age
Animals
Biological and medical sciences
Case-Control Studies
Cataract - blood
Cataract - genetics
Cataract - pathology
Cataracts
Dogs
Enzyme-Linked Immunosorbent Assay
Female
Ferritins - biosynthesis
Ferritins - blood
Ferritins - genetics
Genotype & phenotype
Humans
Infant
Lens diseases
Lens, Crystalline - chemistry
Medical sciences
Microscopy
Microscopy, Electron
Middle Aged
Molecular weight
Mutation
Ophthalmology
Original articles - Clinical science
Phosphatase
Point Mutation - genetics
Proteins
RNA, Messenger - genetics
Syndrome
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container_issue 7
container_start_page 697
container_title British journal of ophthalmology
container_volume 84
creator Mumford, Andrew D
Cree, Ian A
Arnold, Jayantha D
Hagan, Myles C
Rixon, Kenneth C
Harding, John J
description BACKGROUND/AIM Hereditary hyperferritinaemia cataract syndrome (HHCS) is an autosomal dominant disorder characterised by elevated serum L-ferritin and bilateral cataracts. The ocular manifestations of this disorder are poorly studied. This study therefore sought to determine the origin of cataracts in HHCS. METHODS L-ferritin ELISA, immunohistochemical and ultrastructural analysis of a lens nucleus from an HHCS individual. RESULTS The HHCS lens L-ferritin content was 147 μg/g dry weight of lens compared with
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The ocular manifestations of this disorder are poorly studied. This study therefore sought to determine the origin of cataracts in HHCS. METHODS L-ferritin ELISA, immunohistochemical and ultrastructural analysis of a lens nucleus from an HHCS individual. RESULTS The HHCS lens L-ferritin content was 147 μg/g dry weight of lens compared with &lt;16 μg/g for a non-HHCS control cataract lens. The cataract comprised discrete crystalline inclusions with positive staining with anti-L-ferritin but not anti-H-ferritin. CONCLUSIONS This unusual finding of crystalline opacities in the lens may be unique to HHCS and is likely to result from disturbed metabolism of L-ferritin within the lens or an abnormal interaction between L-ferritin and lens proteins.</description><identifier>ISSN: 0007-1161</identifier><identifier>EISSN: 1468-2079</identifier><identifier>DOI: 10.1136/bjo.84.7.697</identifier><identifier>PMID: 10873976</identifier><identifier>CODEN: BJOPAL</identifier><language>eng</language><publisher>BMA House, Tavistock Square, London, WC1H 9JR: BMJ Publishing Group Ltd</publisher><subject>Age ; Animals ; Biological and medical sciences ; Case-Control Studies ; Cataract - blood ; Cataract - genetics ; Cataract - pathology ; Cataracts ; Dogs ; Enzyme-Linked Immunosorbent Assay ; Female ; Ferritins - biosynthesis ; Ferritins - blood ; Ferritins - genetics ; Genotype &amp; phenotype ; Humans ; Infant ; Lens diseases ; Lens, Crystalline - chemistry ; Medical sciences ; Microscopy ; Microscopy, Electron ; Middle Aged ; Molecular weight ; Mutation ; Ophthalmology ; Original articles - Clinical science ; Phosphatase ; Point Mutation - genetics ; Proteins ; RNA, Messenger - genetics ; Syndrome</subject><ispartof>British journal of ophthalmology, 2000-07, Vol.84 (7), p.697-700</ispartof><rights>British Journal of Ophthalmology</rights><rights>2000 INIST-CNRS</rights><rights>Copyright: 2000 British Journal of Ophthalmology</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-b536t-a4acc0ed7bda36cf2ae454b9c9fa7b0c13fdb7cf9fa0e817a5e8d42466024ba23</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/PMC1723562/pdf/$$EPDF$$P50$$Gpubmedcentral$$H</linktopdf><linktohtml>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC1723562/$$EHTML$$P50$$Gpubmedcentral$$H</linktohtml><link.rule.ids>230,314,727,780,784,885,27924,27925,53791,53793</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&amp;idt=1410874$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/10873976$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Mumford, Andrew D</creatorcontrib><creatorcontrib>Cree, Ian A</creatorcontrib><creatorcontrib>Arnold, Jayantha D</creatorcontrib><creatorcontrib>Hagan, Myles C</creatorcontrib><creatorcontrib>Rixon, Kenneth C</creatorcontrib><creatorcontrib>Harding, John J</creatorcontrib><title>The lens in hereditary hyperferritinaemia cataract syndrome contains crystalline deposits of L-ferritin</title><title>British journal of ophthalmology</title><addtitle>Br J Ophthalmol</addtitle><description>BACKGROUND/AIM Hereditary hyperferritinaemia cataract syndrome (HHCS) is an autosomal dominant disorder characterised by elevated serum L-ferritin and bilateral cataracts. The ocular manifestations of this disorder are poorly studied. This study therefore sought to determine the origin of cataracts in HHCS. METHODS L-ferritin ELISA, immunohistochemical and ultrastructural analysis of a lens nucleus from an HHCS individual. RESULTS The HHCS lens L-ferritin content was 147 μg/g dry weight of lens compared with &lt;16 μg/g for a non-HHCS control cataract lens. The cataract comprised discrete crystalline inclusions with positive staining with anti-L-ferritin but not anti-H-ferritin. 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Cree, Ian A ; Arnold, Jayantha D ; Hagan, Myles C ; Rixon, Kenneth C ; Harding, John J</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-b536t-a4acc0ed7bda36cf2ae454b9c9fa7b0c13fdb7cf9fa0e817a5e8d42466024ba23</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2000</creationdate><topic>Age</topic><topic>Animals</topic><topic>Biological and medical sciences</topic><topic>Case-Control Studies</topic><topic>Cataract - blood</topic><topic>Cataract - genetics</topic><topic>Cataract - pathology</topic><topic>Cataracts</topic><topic>Dogs</topic><topic>Enzyme-Linked Immunosorbent Assay</topic><topic>Female</topic><topic>Ferritins - biosynthesis</topic><topic>Ferritins - blood</topic><topic>Ferritins - genetics</topic><topic>Genotype &amp; phenotype</topic><topic>Humans</topic><topic>Infant</topic><topic>Lens diseases</topic><topic>Lens, Crystalline - chemistry</topic><topic>Medical sciences</topic><topic>Microscopy</topic><topic>Microscopy, Electron</topic><topic>Middle Aged</topic><topic>Molecular weight</topic><topic>Mutation</topic><topic>Ophthalmology</topic><topic>Original articles - Clinical science</topic><topic>Phosphatase</topic><topic>Point Mutation - genetics</topic><topic>Proteins</topic><topic>RNA, Messenger - genetics</topic><topic>Syndrome</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Mumford, Andrew D</creatorcontrib><creatorcontrib>Cree, Ian A</creatorcontrib><creatorcontrib>Arnold, Jayantha D</creatorcontrib><creatorcontrib>Hagan, Myles C</creatorcontrib><creatorcontrib>Rixon, Kenneth C</creatorcontrib><creatorcontrib>Harding, John J</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>ProQuest_Health &amp; 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The ocular manifestations of this disorder are poorly studied. This study therefore sought to determine the origin of cataracts in HHCS. METHODS L-ferritin ELISA, immunohistochemical and ultrastructural analysis of a lens nucleus from an HHCS individual. RESULTS The HHCS lens L-ferritin content was 147 μg/g dry weight of lens compared with &lt;16 μg/g for a non-HHCS control cataract lens. The cataract comprised discrete crystalline inclusions with positive staining with anti-L-ferritin but not anti-H-ferritin. CONCLUSIONS This unusual finding of crystalline opacities in the lens may be unique to HHCS and is likely to result from disturbed metabolism of L-ferritin within the lens or an abnormal interaction between L-ferritin and lens proteins.</abstract><cop>BMA House, Tavistock Square, London, WC1H 9JR</cop><pub>BMJ Publishing Group Ltd</pub><pmid>10873976</pmid><doi>10.1136/bjo.84.7.697</doi><tpages>4</tpages><oa>free_for_read</oa></addata></record>
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ispartof British journal of ophthalmology, 2000-07, Vol.84 (7), p.697-700
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source NCBI_PubMed Central（免费）
subjects Age
Animals
Biological and medical sciences
Case-Control Studies
Cataract - blood
Cataract - genetics
Cataract - pathology
Cataracts
Dogs
Enzyme-Linked Immunosorbent Assay
Female
Ferritins - biosynthesis
Ferritins - blood
Ferritins - genetics
Genotype & phenotype
Humans
Infant
Lens diseases
Lens, Crystalline - chemistry
Medical sciences
Microscopy
Microscopy, Electron
Middle Aged
Molecular weight
Mutation
Ophthalmology
Original articles - Clinical science
Phosphatase
Point Mutation - genetics
Proteins
RNA, Messenger - genetics
Syndrome
title The lens in hereditary hyperferritinaemia cataract syndrome contains crystalline deposits of L-ferritin
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