{"id":"https://openalex.org/W28693626","doi":null,"title":"Optic nerve sheath distention in Leber's optic neuropathy and the significance of the \"Wallace mutation\".","display_name":"Optic nerve sheath distention in Leber's optic neuropathy and the significance of the \"Wallace mutation\".","publication_year":1990,"publication_date":"1990-12-01","ids":{"openalex":"https://openalex.org/W28693626","mag":"28693626","pmid":"https://pubmed.ncbi.nlm.nih.gov/2150839"},"language":"en","primary_location":{"id":"pmid:2150839","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/2150839","pdf_url":null,"source":{"id":"https://openalex.org/S4306525036","display_name":"PubMed","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Journal of clinical neuro-ophthalmology","raw_type":"Case Reports"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["pubmed"],"open_access":{"is_oa":false,"oa_status":"closed","oa_url":null,"any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5109319065","display_name":"Smith Jl","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I145608581","display_name":"University of Miami","ror":"https://ror.org/02dgjyy92","country_code":"US","type":"education","lineage":["https://openalex.org/I145608581"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"J L Smith","raw_affiliation_strings":["Bascom Palmer Eye Institute, Department of Ophthalmology, University of Miami School of Medicine, Florida"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Bascom Palmer Eye Institute, Department of Ophthalmology, University of Miami School of Medicine, Florida","institution_ids":["https://openalex.org/I145608581"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5043968233","display_name":"Tse Dt","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"D T Tse","raw_affiliation_strings":["Ophthalmology"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Ophthalmology","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5084882060","display_name":"Byrne Sf","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"S F Byrne","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5110403819","display_name":"Johns Dr","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I145311948","display_name":"Johns Hopkins University","ror":"https://ror.org/00za53h95","country_code":"US","type":"education","lineage":["https://openalex.org/I145311948"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"D R Johns","raw_affiliation_strings":["Johns Hopkins University ("],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Johns Hopkins University (","institution_ids":["https://openalex.org/I145311948"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5080924048","display_name":"Edwin M. Stone","orcid":"https://orcid.org/0000-0003-3343-4414","observed_orcids":["https://orcid.org/0000-0003-3343-4414"]},"institutions":[{"id":"https://openalex.org/I126307644","display_name":"University of Iowa","ror":"https://ror.org/036jqmy94","country_code":"US","type":"education","lineage":["https://openalex.org/I126307644"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"E M Stone","raw_affiliation_strings":["University of Iowa, "],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"University of Iowa, ","institution_ids":["https://openalex.org/I126307644"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":3,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":null,"apc_paid":null,"fwci":1.5329,"has_fulltext":false,"cited_by_count":19,"citation_normalized_percentile":{"value":0.79525259,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":88,"max":93},"biblio":{"volume":"10","issue":"4","first_page":"231","last_page":"8"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10250","display_name":"Glaucoma and retinal disorders","score":0.6685000061988831,"subfield":{"id":"https://openalex.org/subfields/2731","display_name":"Ophthalmology"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},"topics":[{"id":"https://openalex.org/T10250","display_name":"Glaucoma and retinal disorders","score":0.6685000061988831,"subfield":{"id":"https://openalex.org/subfields/2731","display_name":"Ophthalmology"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},{"id":"https://openalex.org/T10301","display_name":"Mitochondrial Function and Pathology","score":0.13809999823570251,"subfield":{"id":"https://openalex.org/subfields/1312","display_name":"Molecular Biology"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T12331","display_name":"Hereditary Neurological Disorders","score":0.09470000118017197,"subfield":{"id":"https://openalex.org/subfields/2804","display_name":"Cellular and Molecular Neuroscience"},"field":{"id":"https://openalex.org/fields/28","display_name":"Neuroscience"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/leber-hereditary-optic-neuropathy","display_name":"Leber's hereditary optic neuropathy","score":0.9869999885559082},{"id":"https://openalex.org/keywords/mtdna-mutations","display_name":"mitochondrial DNA mutations","score":0.6850000023841858},{"id":"https://openalex.org/keywords/11778-mutation","display_name":"11778 mutation","score":0.7559999823570251},{"id":"https://openalex.org/keywords/nd4-gene","display_name":"ND4 gene","score":0.718999981880188},{"id":"https://openalex.org/keywords/optic-disc-cupping","display_name":"optic disc cupping","score":0.6320000290870667},{"id":"https://openalex.org/keywords/family-screening","display_name":"family screening","score":0.5099999904632568},{"id":"https://openalex.org/keywords/ultrasonography","display_name":"ultrasonography","score":0.5360000133514404}],"concepts":[{"id":"https://openalex.org/C2778233873","wikidata":"https://www.wikidata.org/wiki/Q2879095","display_name":"Optic neuropathy","level":3,"score":0.7469746470451355},{"id":"https://openalex.org/C2777056713","wikidata":"https://www.wikidata.org/wiki/Q1262161","display_name":"Leber's hereditary optic neuropathy","level":4,"score":0.7233283519744873},{"id":"https://openalex.org/C2780837183","wikidata":"https://www.wikidata.org/wiki/Q186029","display_name":"Optic nerve","level":2,"score":0.7226099967956543},{"id":"https://openalex.org/C2777910003","wikidata":"https://www.wikidata.org/wiki/Q1707292","display_name":"Asymptomatic","level":2,"score":0.7159999012947083},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.6273199915885925},{"id":"https://openalex.org/C2776513394","wikidata":"https://www.wikidata.org/wiki/Q1412400","display_name":"Microangiopathy","level":3,"score":0.6182313561439514},{"id":"https://openalex.org/C118487528","wikidata":"https://www.wikidata.org/wiki/Q161437","display_name":"Ophthalmology","level":1,"score":0.5123075246810913},{"id":"https://openalex.org/C2781179581","wikidata":"https://www.wikidata.org/wiki/Q2857712","display_name":"Family history","level":2,"score":0.4864499270915985},{"id":"https://openalex.org/C24586158","wikidata":"https://www.wikidata.org/wiki/Q27075","display_name":"Mitochondrial DNA","level":3,"score":0.44652795791625977},{"id":"https://openalex.org/C176944494","wikidata":"https://www.wikidata.org/wiki/Q1415380","display_name":"Point mutation","level":4,"score":0.42381638288497925},{"id":"https://openalex.org/C142724271","wikidata":"https://www.wikidata.org/wiki/Q7208","display_name":"Pathology","level":1,"score":0.37826552987098694},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.26234138011932373},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.21509608626365662},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.19985023140907288},{"id":"https://openalex.org/C555293320","wikidata":"https://www.wikidata.org/wiki/Q12206","display_name":"Diabetes mellitus","level":2,"score":0.16442930698394775},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.16048943996429443},{"id":"https://openalex.org/C134018914","wikidata":"https://www.wikidata.org/wiki/Q162606","display_name":"Endocrinology","level":1,"score":0.12434262037277222},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.11355677247047424}],"mesh":[{"descriptor_ui":"D000328","descriptor_name":"Adult","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D004252","descriptor_name":"DNA Mutational Analysis","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D004272","descriptor_name":"DNA, Mitochondrial","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D005260","descriptor_name":"Female","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005451","descriptor_name":"Fluorescein Angiography","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005654","descriptor_name":"Fundus Oculi","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008279","descriptor_name":"Magnetic Resonance Imaging","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008297","descriptor_name":"Male","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D009154","descriptor_name":"Mutation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D009186","descriptor_name":"Myelin Sheath","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":true},{"descriptor_ui":"D009900","descriptor_name":"Optic Nerve","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":true},{"descriptor_ui":"D014057","descriptor_name":"Tomography, X-Ray Computed","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D015418","descriptor_name":"Optic Atrophies, Hereditary","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D015418","descriptor_name":"Optic Atrophies, Hereditary","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":true}],"locations_count":2,"locations":[{"id":"pmid:2150839","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/2150839","pdf_url":null,"source":{"id":"https://openalex.org/S4306525036","display_name":"PubMed","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Journal of clinical neuro-ophthalmology","raw_type":"Case Reports"},{"id":"mag:28693626","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/2150839","pdf_url":null,"source":{"id":"https://openalex.org/S4306525036","display_name":"PubMed","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":null,"is_accepted":false,"is_published":false,"raw_source_name":"PubMed","raw_type":null}],"best_oa_location":null,"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","score":0.9763000011444092,"display_name":"Good health and well-being"}],"study_designs":[{"id":"https://openalex.org/study-designs/case-report","display_name":"Case Report"}],"awards":[],"funders":[],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":24,"referenced_works":["https://openalex.org/W2025987620","https://openalex.org/W1986796316","https://openalex.org/W2093594324","https://openalex.org/W2016877893","https://openalex.org/W1988635808","https://openalex.org/W2463200720","https://openalex.org/W2065390824","https://openalex.org/W2048767775","https://openalex.org/W2489239851","https://openalex.org/W2014576585","https://openalex.org/W2105898141","https://openalex.org/W2412317102","https://openalex.org/W2054820675","https://openalex.org/W2024194553","https://openalex.org/W1989750207","https://openalex.org/W2043507914","https://openalex.org/W2089564052","https://openalex.org/W2798795107","https://openalex.org/W2104843066","https://openalex.org/W2187790984","https://openalex.org/W1982824807","https://openalex.org/W2325659217","https://openalex.org/W2144929147","https://openalex.org/W1966251743"],"related_works":["https://openalex.org/W2046323790","https://openalex.org/W2918247407","https://openalex.org/W2154215521","https://openalex.org/W2470284619","https://openalex.org/W2091881584","https://openalex.org/W2056070815","https://openalex.org/W2411296751","https://openalex.org/W2048832734","https://openalex.org/W2465618747","https://openalex.org/W2036227862"],"abstract_inverted_index":{"We":[0],"recently":[1,125],"encountered":[2],"a":[3],"27-year-old":[4],"man":[5],"who":[6],"presented":[7],"an":[8],"atypical":[9],"clinical":[10],"picture":[11],"of":[12,95,148,161,183,199],"Leber's":[13,121,201],"hereditary":[14,122],"optic":[15,35,43,123,202],"neuropathy:":[16],"His":[17],"family":[18,113,135,140],"history":[19],"was":[20,32,55,82],"negative,":[21],"visual":[22],"loss":[23],"continued":[24],"steadily":[25],"for":[26],"over":[27],"8":[28],"months,":[29],"circumpapillary":[30,72,89],"microangiopathy":[31,73,90],"equivocal,":[33],"the":[34,75,92,99,143,155,162,177,188],"discs":[36],"showed":[37,70,87,98],"large":[38],"physiologic":[39],"cups,":[40],"and":[41,61,85,137,187,192],"both":[42],"nerve":[44,203],"sheaths":[45],"were":[46,151],"notably":[47],"distended":[48],"with":[49,119,131],"increased":[50],"subarachnoid":[51],"fluid.":[52],"The":[53,65,77,181],"latter":[54],"confirmed":[56],"by":[57,108],"ultrasonography,":[58],"computed":[59],"tomography,":[60],"magnetic":[62],"resonance":[63],"imaging.":[64],"patient's":[66],"asymptomatic":[67,78],"brother":[68],"also":[69],"unimpressive":[71],"in":[74,91,110,142,196],"fundi.":[76,93],"mother":[79],"from":[80,166],"France":[81],"then":[83],"seen,":[84],"she":[86],"classic":[88,100,120],"Studies":[94],"mitochondrial":[96,127,194],"DNA":[97,128,195],"point":[101],"mutation":[102],"at":[103,154,176],"position":[104],"11778":[105],"as":[106],"reported":[107],"Wallace":[109,156],"all":[111],"three":[112,132],"members.":[114],"Another":[115],"patient":[116],"previously":[117],"seen":[118],"neuropathy":[124],"had":[126],"studies":[129],"along":[130],"other":[133],"affected":[134,168],"members":[136,141],"five":[138],"unaffected":[139],"maternal":[144],"lineage.":[145],"All":[146],"nine":[147],"these":[149],"individuals":[150],"completely":[152],"normal":[153,175],"locus.":[157],"In":[158],"fact,":[159],"sequencing":[160],"entire":[163],"ND-4":[164],"gene":[165],"one":[167],"individual":[169],"revealed":[170],"it":[171],"to":[172],"be":[173],"perfectly":[174],"amino":[178],"acid":[179],"level.":[180],"importance":[182],"obtaining":[184],"quantitative":[185],"ultrasonography":[186],"30":[189],"degrees":[190],"test,":[191],"studying":[193],"patients":[197],"suspected":[198],"having":[200],"disease":[204],"is":[205],"emphasized.":[206]},"counts_by_year":[{"year":2018,"cited_by_count":1},{"year":2012,"cited_by_count":1}],"updated_date":"2026-10-31T12:09:11.096373","created_date":"2016-06-24T00:00:00"}
