{"id":"https://openalex.org/W174699668","doi":null,"title":"Cross-sectional Phenotypical Differentiation of Major Blinding Eye Diseases in Europe: Inherited Retinal Dystrophies in Focus","display_name":"Cross-sectional Phenotypical Differentiation of Major Blinding Eye Diseases in Europe: Inherited Retinal Dystrophies in Focus","publication_year":2011,"publication_date":"2011-01-01","ids":{"openalex":"https://openalex.org/W174699668","mag":"174699668"},"language":"en","primary_location":{"id":"mag:174699668","doi":null,"is_oa":false,"landing_page_url":"https://publikationen.uni-tuebingen.de/xmlui/bitstream/handle/10900/45835/pdf/dissertation_e.prokofyeva_15_05_2011_2.pdf?sequence=1","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":"dissertation","is_traditional":true,"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/A5109431294","display_name":"Elena Prokofyeva","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":true,"raw_author_name":"Elena Prokofyeva","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]}],"institutions":[],"countries_distinct_count":0,"institutions_distinct_count":0,"corresponding_author_ids":["https://openalex.org/A5109431294"],"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/T10691","display_name":"Retinal Development and Disorders","score":0.9994999766349792,"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/T10691","display_name":"Retinal Development and Disorders","score":0.9994999766349792,"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/T10170","display_name":"Retinal Diseases and Treatments","score":0.00019999999494757503,"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/T10665","display_name":"Cystic Fibrosis Research Advances","score":0.0,"subfield":{"id":"https://openalex.org/subfields/2740","display_name":"Pulmonary and Respiratory Medicine"},"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/inherited-retinal-degeneration","display_name":"inherited retinal degeneration","score":0.9549999833106995},{"id":"https://openalex.org/keywords/retinitis-pigmentosa","display_name":"retinitis pigmentosa","score":0.9990000128746033},{"id":"https://openalex.org/keywords/cone-rod-dystrophy","display_name":"cone-rod dystrophy","score":0.9390000104904175},{"id":"https://openalex.org/keywords/age-of-disease-onset","display_name":"age of disease onset","score":0.6539999842643738},{"id":"https://openalex.org/keywords/differential-diagnosis","display_name":"differential diagnosis","score":0.8669999837875366},{"id":"https://openalex.org/keywords/visual-acuity","display_name":"visual acuity","score":0.7900000214576721},{"id":"https://openalex.org/keywords/visual-field-defects","display_name":"visual field defects","score":0.9470000267028809},{"id":"https://openalex.org/keywords/multifocal-electroretinography","display_name":"multifocal electroretinogram","score":0.8769999742507935},{"id":"https://openalex.org/keywords/full-field-electroretinogram","display_name":"full-field electroretinogram","score":0.9850000143051147},{"id":"https://openalex.org/keywords/incidence-and-prevalence","display_name":"incidence and prevalence","score":0.7110000252723694}],"concepts":[{"id":"https://openalex.org/C2781114197","wikidata":"https://www.wikidata.org/wiki/Q847057","display_name":"Retinitis pigmentosa","level":3,"score":0.7263364791870117},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.5915946960449219},{"id":"https://openalex.org/C107130276","wikidata":"https://www.wikidata.org/wiki/Q133805","display_name":"Epidemiology","level":2,"score":0.5383907556533813},{"id":"https://openalex.org/C2778257484","wikidata":"https://www.wikidata.org/wiki/Q555066","display_name":"Visual acuity","level":2,"score":0.5310252904891968},{"id":"https://openalex.org/C2908647359","wikidata":"https://www.wikidata.org/wiki/Q2625603","display_name":"Population","level":2,"score":0.49984121322631836},{"id":"https://openalex.org/C2771230","wikidata":"https://www.wikidata.org/wiki/Q4926699","display_name":"Blinding","level":3,"score":0.46600303053855896},{"id":"https://openalex.org/C2776403814","wikidata":"https://www.wikidata.org/wiki/Q27429789","display_name":"Macular degeneration","level":2,"score":0.4503709673881531},{"id":"https://openalex.org/C118487528","wikidata":"https://www.wikidata.org/wiki/Q161437","display_name":"Ophthalmology","level":1,"score":0.43796247243881226},{"id":"https://openalex.org/C2779134260","wikidata":"https://www.wikidata.org/wiki/Q12136","display_name":"Disease","level":2,"score":0.4268835783004761},{"id":"https://openalex.org/C187212893","wikidata":"https://www.wikidata.org/wiki/Q123028","display_name":"Pediatrics","level":1,"score":0.3585304915904999},{"id":"https://openalex.org/C119767625","wikidata":"https://www.wikidata.org/wiki/Q618211","display_name":"Optometry","level":1,"score":0.3204536437988281},{"id":"https://openalex.org/C142724271","wikidata":"https://www.wikidata.org/wiki/Q7208","display_name":"Pathology","level":1,"score":0.3136223554611206},{"id":"https://openalex.org/C2780827179","wikidata":"https://www.wikidata.org/wiki/Q422001","display_name":"Retinal","level":2,"score":0.26496025919914246},{"id":"https://openalex.org/C535046627","wikidata":"https://www.wikidata.org/wiki/Q30612","display_name":"Clinical trial","level":2,"score":0.14979597926139832},{"id":"https://openalex.org/C99454951","wikidata":"https://www.wikidata.org/wiki/Q932068","display_name":"Environmental health","level":1,"score":0.0}],"mesh":[],"locations_count":1,"locations":[{"id":"mag:174699668","doi":null,"is_oa":false,"landing_page_url":"https://publikationen.uni-tuebingen.de/xmlui/bitstream/handle/10900/45835/pdf/dissertation_e.prokofyeva_15_05_2011_2.pdf?sequence=1","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","score":0.9940000176429749,"id":"https://metadata.un.org/sdg/3"}],"study_designs":[],"awards":[],"funders":[],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":145,"referenced_works":["https://openalex.org/W38736333","https://openalex.org/W51533026","https://openalex.org/W61343131","https://openalex.org/W71001787","https://openalex.org/W87365075","https://openalex.org/W90609469","https://openalex.org/W139221143","https://openalex.org/W181257680","https://openalex.org/W991419347","https://openalex.org/W1019079393","https://openalex.org/W1467473692","https://openalex.org/W1492772418","https://openalex.org/W1508544304","https://openalex.org/W1508619469","https://openalex.org/W1512203485","https://openalex.org/W1513406029","https://openalex.org/W1521710734","https://openalex.org/W1525399598","https://openalex.org/W1534353443","https://openalex.org/W1537666349","https://openalex.org/W1539665355","https://openalex.org/W1555052481","https://openalex.org/W1562714951","https://openalex.org/W1576994505","https://openalex.org/W1580712962","https://openalex.org/W1587598575","https://openalex.org/W1593180567","https://openalex.org/W1735308621","https://openalex.org/W1771055665","https://openalex.org/W1845530645","https://openalex.org/W1964384016","https://openalex.org/W1973873138","https://openalex.org/W1974005349","https://openalex.org/W1974358311","https://openalex.org/W1974788303","https://openalex.org/W1980623242","https://openalex.org/W1980772932","https://openalex.org/W1981096720","https://openalex.org/W1983689913","https://openalex.org/W1992151727","https://openalex.org/W1997833814","https://openalex.org/W1998653427","https://openalex.org/W1999109674","https://openalex.org/W1999311112","https://openalex.org/W2001902295","https://openalex.org/W2003062992","https://openalex.org/W2005335651","https://openalex.org/W2005764405","https://openalex.org/W2007234838","https://openalex.org/W2007908773","https://openalex.org/W2008922405","https://openalex.org/W2009262921","https://openalex.org/W2017899470","https://openalex.org/W2018253988","https://openalex.org/W2019452423","https://openalex.org/W2021933371","https://openalex.org/W2025548287","https://openalex.org/W2026078402","https://openalex.org/W2027785277","https://openalex.org/W2029539710","https://openalex.org/W2030124851","https://openalex.org/W2034494655","https://openalex.org/W2037862483","https://openalex.org/W2038348058","https://openalex.org/W2039242887","https://openalex.org/W2040858740","https://openalex.org/W2041282815","https://openalex.org/W2042763362","https://openalex.org/W2043243083","https://openalex.org/W2043895261","https://openalex.org/W2044324024","https://openalex.org/W2044955006","https://openalex.org/W2045404914","https://openalex.org/W2047173192","https://openalex.org/W2047652090","https://openalex.org/W2047697427","https://openalex.org/W2055635377","https://openalex.org/W2056733048","https://openalex.org/W2061905897","https://openalex.org/W2064097576","https://openalex.org/W2067889677","https://openalex.org/W2071108027","https://openalex.org/W2073613983","https://openalex.org/W2074285947","https://openalex.org/W2074635175","https://openalex.org/W2074815888","https://openalex.org/W2077890322","https://openalex.org/W2085022206","https://openalex.org/W2085314272","https://openalex.org/W2088682369","https://openalex.org/W2089710019","https://openalex.org/W2092484891","https://openalex.org/W2095002501","https://openalex.org/W2095231843","https://openalex.org/W2096060458","https://openalex.org/W2098555483","https://openalex.org/W2103860096","https://openalex.org/W2104755463","https://openalex.org/W2105097639","https://openalex.org/W2105409224","https://openalex.org/W2107143742","https://openalex.org/W2108847465","https://openalex.org/W2109431233","https://openalex.org/W2110139316","https://openalex.org/W2110169515","https://openalex.org/W2112467536","https://openalex.org/W2113903634","https://openalex.org/W2117291460","https://openalex.org/W2118347518","https://openalex.org/W2119070939","https://openalex.org/W2120110441","https://openalex.org/W2121918635","https://openalex.org/W2122295650","https://openalex.org/W2123921337","https://openalex.org/W2126349659","https://openalex.org/W2127923732","https://openalex.org/W2128418445","https://openalex.org/W2131014421","https://openalex.org/W2131687236","https://openalex.org/W2132175808","https://openalex.org/W2134954483","https://openalex.org/W2137691641","https://openalex.org/W2147376890","https://openalex.org/W2152272038","https://openalex.org/W2155745777","https://openalex.org/W2158310183","https://openalex.org/W2158770960","https://openalex.org/W2161217162","https://openalex.org/W2166621376","https://openalex.org/W2167095271","https://openalex.org/W2167686421","https://openalex.org/W2176307978","https://openalex.org/W2271034491","https://openalex.org/W2408620091","https://openalex.org/W2410243280","https://openalex.org/W2411843194","https://openalex.org/W2413847082","https://openalex.org/W2479126017","https://openalex.org/W2509729954","https://openalex.org/W2524761651","https://openalex.org/W2796963207","https://openalex.org/W2918138998","https://openalex.org/W3161286423","https://openalex.org/W3188379877","https://openalex.org/W4240304626"],"related_works":["https://openalex.org/W1968072044","https://openalex.org/W3135563215","https://openalex.org/W4293252910","https://openalex.org/W4317932507","https://openalex.org/W4387816493","https://openalex.org/W2067260068","https://openalex.org/W1998653427","https://openalex.org/W3153190824","https://openalex.org/W4390418502","https://openalex.org/W4407305734"],"abstract_inverted_index":{"109":[0],"This":[1,81,203,301],"dissertation":[2,204],"includes":[3,206,248],"the":[4,11,24,38,65,128,131,146,157,214,249,255,285],"most":[5,39],"recent":[6],"systematic":[7],"literature":[8],"meta-analysis":[9],"on":[10,23,52,238],"epidemiology":[12,25],"of":[13,26,42,56,69,77,96,109,130,133,140,159,173,178,209,213,225,241,251,291],"inherited":[14,43],"retinal":[15,44],"degenerations":[16],"(IRD)":[17,46],"in":[18,85,99,111,137,181,187,217,233,244,254,264,288,307],"Europe.":[19],"Very":[20],"few":[21,61],"studies":[22,35,62],"retinitis":[27],"pigmentosa":[28],"(RP)":[29],"are":[30],"nation-wide":[31],"and":[32,47,54,67,71,101,199,221],"population-based.":[33],"Existing":[34],"address":[36],"only":[37],"frequent":[40],"forms":[41],"dystrophies":[45,185],"do":[48],"not":[49,271],"provide":[50,165],"data":[51,76],"prevalence":[53],"incidence":[55],"individual":[57],"eye":[58],"diseases.":[59],"Only":[60],"deal":[63],"with":[64,183,189,230,246],"onset":[66,98,132,163],"progression":[68],"IRD":[70,79,141,256,267],"none":[72],"compares":[73],"clinical":[74,211,308],"electrophysiological":[75],"different":[78,289],"types.":[80],"shortcoming":[82],"is":[83,228],"addressed":[84],"a":[86,105,138,150,207,259],"chapter":[87,237],"that":[88,156],"describes":[89],"an":[90,166],"epidemiological":[91,302],"approach":[92,303],"for":[93,121,145,169,310],"estimating":[94],"age":[95,120],"disease":[97],"central":[100],"peripheral":[102],"IRD.":[103,174,218,234],"Interestingly":[104],"relatively":[106],"high":[107],"number":[108],"patients":[110,182,245],"both":[112],"groups":[113],"retained":[114],"quite":[115],"good":[116],"visual":[117,135,161,179,191,215],"acuity.":[118],"An":[119],"optimal":[122],"therapeutic":[123],"intervention":[124],"was":[125,142,154,278],"defined.":[126],"Moreover":[127,175],"pattern":[129,158],"major":[134,160],"symptoms":[136,162],"variety":[139],"investigated,":[143],"providing":[144],"first":[147],"time":[148],"such":[149],"comprehensive":[151],"analysis.":[152],"It":[153,277],"shown":[155],"can":[164,194,304],"extra":[167],"cue":[168],"early":[170,197],"differential":[171],"diagnosis":[172],"severe":[176],"loss":[177],"acuity":[180],"cone-rod":[184],"(CRD)":[186],"combination":[188],"mixed":[190],"field":[192],"defects":[193],"lead":[195],"to":[196,281],"disability":[198],"requires":[200],"special":[201],"attention.":[202],"also":[205,279],"study":[208],"particular":[210],"signs":[212],"system":[216],"Multifocal":[219],"(mf)":[220],"full-field":[222],"electroretinogram":[223],"(ERG)":[224],"normal":[226],"subjects":[227],"compared":[229],"those":[231],"obtained":[232],"A":[235],"further":[236],"visual-related":[239],"quality":[240],"life":[242],"(VRQL)":[243],"RP":[247],"assessment":[250],"VRQL":[252,286],"change":[253],"population":[257],"as":[258,261,263],"whole,":[260],"well":[262],"eleven":[265],"rare":[266],"types,":[268],"which":[269,293],"has":[270],"been":[272],"performed":[273],"previously":[274],"by":[275],"others.":[276],"possible":[280],"reveal":[282],"differences":[283],"between":[284],"changes":[287],"types":[290],"IRD,":[292],"should":[294],"be":[295,305],"considered":[296],"when":[297],"testing":[298],"new":[299],"treatments.":[300],"applied":[306],"practice":[309]},"counts_by_year":[],"updated_date":"2026-11-04T10:54:05.112534","created_date":"2016-06-24T00:00:00"}
