{"id":"https://openalex.org/W2584792012","doi":null,"title":"Letter to the Editor Ocular abnormalities in nail patella syndrome","display_name":"Letter to the Editor Ocular abnormalities in nail patella syndrome","publication_year":2006,"publication_date":"2006-01-01","ids":{"openalex":"https://openalex.org/W2584792012","mag":"2584792012"},"language":"en","primary_location":{"id":"mag:2584792012","doi":null,"is_oa":false,"landing_page_url":"http://www.bioline.org.br/pdf?hg06018","pdf_url":null,"source":null,"license":null,"license_id":null,"version":null,"is_accepted":false,"is_published":false,"raw_source_name":null,"raw_type":null},"volume":null,"type":"letter","indexed_in":[],"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/A5104118595","display_name":"Vignesh Raja","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Vignesh Raja","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5052818151","display_name":"Pravin Sandanshiv","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Pravin Sandanshiv","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5087579431","display_name":"Mark Neugebauer","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Mark Neugebauer","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":null,"display_name":"Elizabeth Sweeney","orcid":"https://orcid.org/0000-0002-2555-5497","observed_orcids":["https://orcid.org/0000-0002-2555-5497"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Elizabeth Sweeney","raw_affiliation_strings":[],"raw_orcid":"https://orcid.org/0000-0002-2555-5497","affiliations":[]},{"author_position":"last","author":{"id":"https://openalex.org/A5011789928","display_name":"Iain McIntosh","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Iain McIntosh","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]}],"institutions":[],"countries_distinct_count":0,"institutions_distinct_count":0,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":null,"apc_paid":null,"fwci":null,"has_fulltext":false,"cited_by_count":0,"citation_normalized_percentile":null,"cited_by_percentile_year":null,"biblio":{"volume":null,"issue":null,"first_page":null,"last_page":null},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T12989","display_name":"Ocular Disorders and Treatments","score":0.9657999873161316,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"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"}},"topics":[{"id":"https://openalex.org/T12989","display_name":"Ocular Disorders and Treatments","score":0.9657999873161316,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"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/T10250","display_name":"Glaucoma and retinal disorders","score":0.023499999195337296,"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/T10563","display_name":"Corneal surgery and disorders","score":0.0019000000320374966,"subfield":{"id":"https://openalex.org/subfields/2741","display_name":"Radiology, Nuclear Medicine and Imaging"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/nail-patella-syndrome","display_name":"nail-patella syndrome","score":0.9990000128746033},{"id":"https://openalex.org/keywords/ocular-manifestations","display_name":"ocular manifestations","score":0.8989999890327454},{"id":"https://openalex.org/keywords/glaucoma","display_name":"glaucoma","score":0.9229999780654907},{"id":"https://openalex.org/keywords/iris-pigmentation","display_name":"iris pigmentation","score":0.7289999723434448},{"id":"https://openalex.org/keywords/glaucoma-screening","display_name":"glaucoma screening","score":0.8579999804496765},{"id":"https://openalex.org/keywords/kidney-disease","display_name":"kidney disease","score":0.7350000143051147},{"id":"https://openalex.org/keywords/iliac-horns","display_name":"iliac horns","score":0.8140000104904175},{"id":"https://openalex.org/keywords/nail-disorders","display_name":"nail disorders","score":0.3930000066757202},{"id":"https://openalex.org/keywords/slit-lamp-examination","display_name":"slit lamp examination","score":0.7379999756813049},{"id":"https://openalex.org/keywords/gonioscopy","display_name":"gonioscopy","score":0.9200000166893005}],"concepts":[{"id":"https://openalex.org/C2780892088","wikidata":"https://www.wikidata.org/wiki/Q1414474","display_name":"Gonioscopy","level":3,"score":0.8914265632629395},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.798396110534668},{"id":"https://openalex.org/C2776407475","wikidata":"https://www.wikidata.org/wiki/Q1981783","display_name":"Pathognomonic","level":3,"score":0.7721364498138428},{"id":"https://openalex.org/C2778527774","wikidata":"https://www.wikidata.org/wiki/Q159701","display_name":"Glaucoma","level":2,"score":0.5665359497070312},{"id":"https://openalex.org/C118487528","wikidata":"https://www.wikidata.org/wiki/Q161437","display_name":"Ophthalmology","level":1,"score":0.5532441139221191},{"id":"https://openalex.org/C2778236049","wikidata":"https://www.wikidata.org/wiki/Q7880668","display_name":"Ultrasound biomicroscopy","level":3,"score":0.5508138537406921},{"id":"https://openalex.org/C2776391266","wikidata":"https://www.wikidata.org/wiki/Q9612","display_name":"Fundus (uterus)","level":2,"score":0.549387514591217},{"id":"https://openalex.org/C2776407710","wikidata":"https://www.wikidata.org/wiki/Q1672638","display_name":"Iridectomy","level":3,"score":0.508820116519928},{"id":"https://openalex.org/C2910210001","wikidata":"https://www.wikidata.org/wiki/Q2359844","display_name":"Anterior Eye Segment","level":3,"score":0.505094587802887},{"id":"https://openalex.org/C2779503344","wikidata":"https://www.wikidata.org/wiki/Q5973514","display_name":"IRIS (biosensor)","level":3,"score":0.5043274164199829},{"id":"https://openalex.org/C2776521421","wikidata":"https://www.wikidata.org/wiki/Q9294051","display_name":"Ocular hypertension","level":3,"score":0.4374116063117981},{"id":"https://openalex.org/C105702510","wikidata":"https://www.wikidata.org/wiki/Q514","display_name":"Anatomy","level":1,"score":0.39412444829940796},{"id":"https://openalex.org/C141071460","wikidata":"https://www.wikidata.org/wiki/Q40821","display_name":"Surgery","level":1,"score":0.34373682737350464},{"id":"https://openalex.org/C142724271","wikidata":"https://www.wikidata.org/wiki/Q7208","display_name":"Pathology","level":1,"score":0.13432461023330688},{"id":"https://openalex.org/C2776882836","wikidata":"https://www.wikidata.org/wiki/Q168291","display_name":"Cornea","level":2,"score":0.11716043949127197},{"id":"https://openalex.org/C184297639","wikidata":"https://www.wikidata.org/wiki/Q177765","display_name":"Biometrics","level":2,"score":0.0},{"id":"https://openalex.org/C38652104","wikidata":"https://www.wikidata.org/wiki/Q3510521","display_name":"Computer security","level":1,"score":0.0},{"id":"https://openalex.org/C41008148","wikidata":"https://www.wikidata.org/wiki/Q21198","display_name":"Computer science","level":0,"score":0.0},{"id":"https://openalex.org/C2779134260","wikidata":"https://www.wikidata.org/wiki/Q12136","display_name":"Disease","level":2,"score":0.0}],"mesh":[],"locations_count":1,"locations":[{"id":"mag:2584792012","doi":null,"is_oa":false,"landing_page_url":"http://www.bioline.org.br/pdf?hg06018","pdf_url":null,"source":null,"license":null,"license_id":null,"version":null,"is_accepted":false,"is_published":false,"raw_source_name":null,"raw_type":null}],"best_oa_location":null,"sustainable_development_goals":[{"display_name":"Good health and well-being","id":"https://metadata.un.org/sdg/3","score":0.9537000060081482}],"study_designs":[],"awards":[],"funders":[],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":2,"referenced_works":["https://openalex.org/W1501615856","https://openalex.org/W1969426707"],"related_works":["https://openalex.org/W4309918932","https://openalex.org/W1990395951","https://openalex.org/W2076687790","https://openalex.org/W4220726145","https://openalex.org/W2882979921","https://openalex.org/W4312032413","https://openalex.org/W16769138","https://openalex.org/W1856383615","https://openalex.org/W7100780304","https://openalex.org/W2005203972"],"abstract_inverted_index":{"Sir,":[0],"Nail":[1],"patella":[2,57,82,153,210,276,290,384],"syndrome":[3,58,211,291,385],"(NPS;":[4],"OMIM":[5],"#161200)":[6],"is":[7,158,310,347],"a":[8,12,142,159,222,256,377],"pleiotropic":[9],"condition,":[10],"with":[11,55,78,98,135,151,251,274,288,345,353,370,376,382],"classical":[13],"clinical":[14],"tetrad":[15],"of":[16,18,26,38,50,75,87,123,126,144,147,161,164,181,197,208,216,224,227,258,270,286,296,317,330,365,380,404],"involvement":[17],"the":[19,24,39,48,73,132,171,182,205,214,234,241,267,281,303,314,318,323,328,354,363,368,391,402],"nails,":[20],"knees,":[21],"elbows":[22],"and":[23,31,104,189,321,332],"presence":[25],"iliac":[27],"horns.":[28],"Kidney":[29],"disease":[30,334],"glaucoma":[32,271,331],"are":[33,386],"now":[34],"recognized":[35],"as":[36,221,253,394],"part":[37],"syndrome.":[40,83,154,277],"[1]":[41,338],"We":[42],"would":[43],"like":[44],"to":[45,115,131,140,202,213,350,388,401],"report":[46],"on":[47,192,306],"spectrum":[49,215],"ocular":[51,206],"manifestations":[52],"in":[53,149,170,177,233,240,249,255,272,302,313,322,335,341,358,367,396],"patients":[54,77,112,150,184,188,250,273,287,298,381],"nail":[56,81,152,209,275,289,383],"that":[59],"have":[60,116],"not":[61,244,348],"been":[62,231],"reported":[63],"earlier.":[64],"In":[65,106],"an":[66,300],"observational":[67],"case":[68],"series":[69],"study,":[70,109],"we":[71],"studied":[72],"eyes":[74],"seven":[76,183],"genetically":[79],"confirmed":[80],"Examination":[84],"included":[85],"estimation":[86],"visual":[88],"acuity,":[89],"anterior":[90,117,217,235,315],"segment":[91],"examination":[92,97],"using":[93],"slit":[94,99],"lamp,":[95],"fundus":[96],"lamp":[100],"biomicroscopy,":[101],"applanation":[102],"tonometry":[103],"gonioscopy.":[105],"this":[107],"initial":[108],"all":[110],"our":[111,198,397],"were":[113,185,190],"noted":[114],"chamber":[118,218,236,316],"angle":[119,392],"abnormalities,":[120],"which":[121,157,371],"comprised":[122],"prominent":[124],"strands":[125],"iris":[127],"tissue":[128],"processes":[129],"attached":[130],"trabecular":[133],"meshwork,":[134],"open":[136],"angles,":[137],"leading":[138],"us":[139,201],"suspect":[141],"variant":[143],"Axenfeld\u2019s":[145,225],"type":[146,226],"anomaly":[148,228],"Lester":[155,238],"sign,":[156],"zone":[160],"darker":[162],"pigmentation":[163],"cloverleaf":[165],"or":[166],"flower":[167],"shape":[168],"pattern":[169],"central":[172],"iris,":[173,242],"was":[174],"observed":[175],"bilaterally":[176],"three":[178],"patients.":[179,261,337],"Four":[180],"known":[186],"glaucomatous":[187],"already":[191],"topical":[193],"medication.":[194],"The":[195,339],"findings":[196,329],"study":[199,257,264,279,398],"prompt":[200],"wonder":[203],"whether":[204,390],"features":[207],"belong":[212],"cleavage":[219],"syndromes,":[220],"variation":[223,340,366],"has":[229],"clearly":[230],"demonstrated":[232,395],"angle.":[237],"sign":[239],"though":[243],"pathognomonic,":[245],"occurs":[246],"more":[247],"frequently":[248],"NPS,":[252],"described":[254],"123":[259],"British":[260],"[2]":[262],"Our":[263],"also":[265,311],"highlights":[266],"increased":[268],"incidence":[269],"This":[278],"emphasizes":[280],"need":[282],"for":[283,292],"regular":[284],"screening":[285],"glaucoma.":[293,405],"Genetic":[294],"analysis":[295],"these":[297],"showed":[299],"abnormality":[301],"LMX1B":[304,309,359,372],"gene":[305],"chromosome":[307],"9q34.":[308],"expressed":[312],"developing":[319],"eye":[320],"kidney":[324,333],"throughout":[325],"life,":[326],"explaining":[327],"NPS":[336,346],"symptoms":[342],"among":[343],"people":[344],"believed":[349],"be":[351,362],"associated":[352],"different":[355],"mutations":[356],"found":[357],"but":[360],"may":[361],"result":[364],"genes":[369],"interacts.":[373],"Further":[374],"studies":[375],"larger":[378],"group":[379],"needed":[387],"prove":[389],"abnormalities":[393],"actually":[399],"contribute":[400],"development":[403]},"counts_by_year":[],"updated_date":"2026-10-02T10:15:12.560889","created_date":"2017-02-10T00:00:00"}
