{"id":"https://openalex.org/W1981489792","doi":"https://doi.org/10.1167/iovs.11-8313","title":"Retinal Disease Course in Usher Syndrome 1B Due to MYO7A Mutations","display_name":"Retinal Disease Course in Usher Syndrome 1B Due to MYO7A Mutations","publication_year":2011,"publication_date":"2011-08-27","ids":{"openalex":"https://openalex.org/W1981489792","doi":"https://doi.org/10.1167/iovs.11-8313","mag":"1981489792","pmid":"https://pubmed.ncbi.nlm.nih.gov/21873662","pmcid":"https://www.ncbi.nlm.nih.gov/pmc/articles/3263772"},"language":"en","primary_location":{"id":"doi:10.1167/iovs.11-8313","doi":"https://doi.org/10.1167/iovs.11-8313","is_oa":true,"landing_page_url":"https://doi.org/10.1167/iovs.11-8313","pdf_url":"https://iovs.arvojournals.org/arvo/content_public/journal/iovs/933458/z7g01111007924.pdf","source":{"id":"https://openalex.org/S76304953","display_name":"Investigative Ophthalmology & Visual Science","issn_l":"0146-0404","issn":["0146-0404","1552-5783"],"is_oa":false,"is_in_doaj":true,"is_core":true,"listed_in":["anvur-scientific","cwts-core","doaj","dongbi-c","doyens","jufo-2","ki-jl-2","medline","norway-2","oarl","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310321950","host_organization_name":"Cadmus Press","host_organization_lineage":["https://openalex.org/P4310321950"],"host_organization_lineage_names":["Cadmus Press"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Investigative Opthalmology &amp; Visual Science","raw_type":"journal-article"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["crossref","doaj","pubmed"],"open_access":{"is_oa":true,"oa_status":"bronze","oa_url":"https://iovs.arvojournals.org/arvo/content_public/journal/iovs/933458/z7g01111007924.pdf","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5075246209","display_name":"Samuel G. Jacobson","orcid":"https://orcid.org/0000-0003-2122-169X","observed_orcids":["https://orcid.org/0000-0003-2122-169X"]},"institutions":[{"id":"https://openalex.org/I79576946","display_name":"University of Pennsylvania","ror":"https://ror.org/00b30xv10","country_code":"US","type":"education","lineage":["https://openalex.org/I79576946"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Samuel G. Jacobson","raw_affiliation_strings":["From the Scheie Eye Institute, Department of Ophthalmology, University of Pennsylvania, Philadelphia, Pennsylvania"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"From the Scheie Eye Institute, Department of Ophthalmology, University of Pennsylvania, Philadelphia, Pennsylvania","institution_ids":["https://openalex.org/I79576946"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5050082615","display_name":"Artur V. Cideciyan","orcid":"https://orcid.org/0000-0002-2018-0905","observed_orcids":["https://orcid.org/0000-0002-2018-0905"]},"institutions":[{"id":"https://openalex.org/I79576946","display_name":"University of Pennsylvania","ror":"https://ror.org/00b30xv10","country_code":"US","type":"education","lineage":["https://openalex.org/I79576946"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Artur V. Cideciyan","raw_affiliation_strings":["From the Scheie Eye Institute, Department of Ophthalmology, University of Pennsylvania, Philadelphia, Pennsylvania"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"From the Scheie Eye Institute, Department of Ophthalmology, University of Pennsylvania, Philadelphia, Pennsylvania","institution_ids":["https://openalex.org/I79576946"]}]},{"author_position":"middle","author":{"id":null,"display_name":"Dan Gibbs","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I1307098950","display_name":"Salk Institute for Biological Studies","ror":"https://ror.org/03xez1567","country_code":"US","type":"nonprofit","lineage":["https://openalex.org/I1307098950"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Dan Gibbs","raw_affiliation_strings":["the Salk Institute for Biological Studies, La Jolla, California;"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"the Salk Institute for Biological Studies, La Jolla, California;","institution_ids":["https://openalex.org/I1307098950"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5066072322","display_name":"Alexander Sumaroka","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I79576946","display_name":"University of Pennsylvania","ror":"https://ror.org/00b30xv10","country_code":"US","type":"education","lineage":["https://openalex.org/I79576946"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Alexander Sumaroka","raw_affiliation_strings":["From the Scheie Eye Institute, Department of Ophthalmology, University of Pennsylvania, Philadelphia, Pennsylvania"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"From the Scheie Eye Institute, Department of Ophthalmology, University of Pennsylvania, Philadelphia, Pennsylvania","institution_ids":["https://openalex.org/I79576946"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5055856500","display_name":"Alejandro J. Rom\u00e1n","orcid":"https://orcid.org/0000-0001-7368-3007","observed_orcids":["https://orcid.org/0000-0001-7368-3007"]},"institutions":[{"id":"https://openalex.org/I79576946","display_name":"University of Pennsylvania","ror":"https://ror.org/00b30xv10","country_code":"US","type":"education","lineage":["https://openalex.org/I79576946"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Alejandro J. Roman","raw_affiliation_strings":["From the Scheie Eye Institute, Department of Ophthalmology, University of Pennsylvania, Philadelphia, Pennsylvania"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"From the Scheie Eye Institute, Department of Ophthalmology, University of Pennsylvania, Philadelphia, Pennsylvania","institution_ids":["https://openalex.org/I79576946"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5012724884","display_name":"Tom\u00e1s S. Alem\u00e1n","orcid":"https://orcid.org/0000-0001-5709-0236","observed_orcids":["https://orcid.org/0000-0001-5709-0236"]},"institutions":[{"id":"https://openalex.org/I79576946","display_name":"University of Pennsylvania","ror":"https://ror.org/00b30xv10","country_code":"US","type":"education","lineage":["https://openalex.org/I79576946"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Tomas S. Aleman","raw_affiliation_strings":["From the Scheie Eye Institute, Department of Ophthalmology, University of Pennsylvania, Philadelphia, Pennsylvania"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"From the Scheie Eye Institute, Department of Ophthalmology, University of Pennsylvania, Philadelphia, Pennsylvania","institution_ids":["https://openalex.org/I79576946"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5102742935","display_name":"Sharon Schwartz","orcid":"https://orcid.org/0000-0003-1707-0016","observed_orcids":["https://orcid.org/0000-0003-1707-0016"]},"institutions":[{"id":"https://openalex.org/I79576946","display_name":"University of Pennsylvania","ror":"https://ror.org/00b30xv10","country_code":"US","type":"education","lineage":["https://openalex.org/I79576946"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Sharon B. Schwartz","raw_affiliation_strings":["From the Scheie Eye Institute, Department of Ophthalmology, University of Pennsylvania, Philadelphia, Pennsylvania"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"From the Scheie Eye Institute, Department of Ophthalmology, University of Pennsylvania, Philadelphia, Pennsylvania","institution_ids":["https://openalex.org/I79576946"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5003381467","display_name":"Melani B. Olivares","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I79576946","display_name":"University of Pennsylvania","ror":"https://ror.org/00b30xv10","country_code":"US","type":"education","lineage":["https://openalex.org/I79576946"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Melani B. Olivares","raw_affiliation_strings":["From the Scheie Eye Institute, Department of Ophthalmology, University of Pennsylvania, Philadelphia, Pennsylvania"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"From the Scheie Eye Institute, Department of Ophthalmology, University of Pennsylvania, Philadelphia, Pennsylvania","institution_ids":["https://openalex.org/I79576946"]}]},{"author_position":"middle","author":{"id":null,"display_name":"Robert C. Russell","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I79576946","display_name":"University of Pennsylvania","ror":"https://ror.org/00b30xv10","country_code":"US","type":"education","lineage":["https://openalex.org/I79576946"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Robert C. Russell","raw_affiliation_strings":["From the Scheie Eye Institute, Department of Ophthalmology, University of Pennsylvania, Philadelphia, Pennsylvania"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"From the Scheie Eye Institute, Department of Ophthalmology, University of Pennsylvania, Philadelphia, Pennsylvania","institution_ids":["https://openalex.org/I79576946"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5111675084","display_name":"Janet D. Steinberg","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I79576946","display_name":"University of Pennsylvania","ror":"https://ror.org/00b30xv10","country_code":"US","type":"education","lineage":["https://openalex.org/I79576946"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Janet D. Steinberg","raw_affiliation_strings":["From the Scheie Eye Institute, Department of Ophthalmology, University of Pennsylvania, Philadelphia, Pennsylvania"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"From the Scheie Eye Institute, Department of Ophthalmology, University of Pennsylvania, Philadelphia, Pennsylvania","institution_ids":["https://openalex.org/I79576946"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5029998515","display_name":"Margaret A. Kenna","orcid":"https://orcid.org/0000-0003-0851-9272","observed_orcids":["https://orcid.org/0000-0003-0851-9272"]},"institutions":[{"id":"https://openalex.org/I1288882113","display_name":"Boston Children's Hospital","ror":"https://ror.org/00dvg7y05","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1288882113"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Margaret A. Kenna","raw_affiliation_strings":["the Department of Otolaryngology and Communication Enhancement, Children's Hospital Boston, Boston, Massachusetts;"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"the Department of Otolaryngology and Communication Enhancement, Children's Hospital Boston, Boston, Massachusetts;","institution_ids":["https://openalex.org/I1288882113"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5111634190","display_name":"William J. Kimberling","orcid":null,"observed_orcids":[]},"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"]},{"id":"https://openalex.org/I4210107141","display_name":"Boys Town National Research Hospital","ror":"https://ror.org/01q9r1072","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I4210107141"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"William J. Kimberling","raw_affiliation_strings":["the Usher Syndrome Center, Boys Town National Research Hospital, Omaha, Nebraska; the 5Department of Ophthalmology, University of Iowa Carver School of Medicine, Iowa City, Iowa;","the Department of Ophthalmology, University of Iowa Carver School of Medicine, Iowa City, Iowa;"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"the Usher Syndrome Center, Boys Town National Research Hospital, Omaha, Nebraska; the 5Department of Ophthalmology, University of Iowa Carver School of Medicine, Iowa City, Iowa;","institution_ids":["https://openalex.org/I126307644","https://openalex.org/I4210107141"]},{"raw_affiliation_string":"the Department of Ophthalmology, University of Iowa Carver School of Medicine, Iowa City, Iowa;","institution_ids":["https://openalex.org/I126307644"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5014144046","display_name":"Heidi L. Rehm","orcid":"https://orcid.org/0000-0002-6025-0015","observed_orcids":["https://orcid.org/0000-0002-6025-0015"]},"institutions":[{"id":"https://openalex.org/I136199984","display_name":"Harvard University","ror":"https://ror.org/03vek6s52","country_code":"US","type":"education","lineage":["https://openalex.org/I136199984"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Heidi L. Rehm","raw_affiliation_strings":["the Department of Pathology, Harvard Medical School, Boston, Massachusetts; and"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"the Department of Pathology, Harvard Medical School, Boston, Massachusetts; and","institution_ids":["https://openalex.org/I136199984"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5077453291","display_name":"David S. Williams","orcid":"https://orcid.org/0000-0002-7758-3932","observed_orcids":["https://orcid.org/0000-0002-7758-3932"]},"institutions":[{"id":"https://openalex.org/I161318765","display_name":"University of California, Los Angeles","ror":"https://ror.org/046rm7j60","country_code":"US","type":"education","lineage":["https://openalex.org/I161318765"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"David S. Williams","raw_affiliation_strings":["the Jules Stein Eye Institute, Department of Ophthalmology, University of California, Los Angeles, California"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"the Jules Stein Eye Institute, Department of Ophthalmology, University of California, Los Angeles, California","institution_ids":["https://openalex.org/I161318765"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":7,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":{"value":1850,"currency":"USD","value_usd":1850},"apc_paid":null,"fwci":5.7989,"has_fulltext":true,"cited_by_count":86,"citation_normalized_percentile":{"value":0.96032482,"is_in_top_1_percent":false,"is_in_top_10_percent":true},"cited_by_percentile_year":{"min":88,"max":99},"biblio":{"volume":"52","issue":"11","first_page":"7924","last_page":"7924"},"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":0.0,"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/T11194","display_name":"Ocular Diseases and Beh\u00e7et\u2019s Syndrome","score":0.0,"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"}}],"keywords":[{"id":"https://openalex.org/keywords/usher-syndrome-type-1b","display_name":"Usher syndrome type 1B","score":0.9160000085830688},{"id":"https://openalex.org/keywords/retinal-disease-progression","display_name":"retinal disease progression","score":0.8009999990463257},{"id":"https://openalex.org/keywords/rod-photoreceptor-degeneration","display_name":"rod photoreceptor degeneration","score":0.8309999704360962},{"id":"https://openalex.org/keywords/cone-photoreceptor-degeneration","display_name":"cone photoreceptor degeneration","score":0.9039999842643738},{"id":"https://openalex.org/keywords/central-vision-loss","display_name":"central vision loss","score":0.7310000061988831},{"id":"https://openalex.org/keywords/photoreceptor-layer-thickness","display_name":"photoreceptor layer thickness","score":0.6600000262260437},{"id":"https://openalex.org/keywords/dark-adaptation","display_name":"dark adaptation","score":0.5649999976158142},{"id":"https://openalex.org/keywords/electroretinography","display_name":"electroretinogram","score":0.7480000257492065},{"id":"https://openalex.org/keywords/kinetic-perimetry","display_name":"kinetic perimetry","score":0.7829999923706055},{"id":"https://openalex.org/keywords/genotype-phenotype-correlation","display_name":"genotype-phenotype correlation","score":0.8130000233650208},{"id":"https://openalex.org/keywords/null-alleles","display_name":"null alleles","score":0.7540000081062317},{"id":"https://openalex.org/keywords/gene-therapy-target","display_name":"gene therapy target","score":0.6819999814033508}],"concepts":[{"id":"https://openalex.org/C2780274975","wikidata":"https://www.wikidata.org/wiki/Q917399","display_name":"Usher syndrome","level":4,"score":0.6706815958023071},{"id":"https://openalex.org/C180754005","wikidata":"https://www.wikidata.org/wiki/Q80726","display_name":"Allele","level":3,"score":0.5393566489219666},{"id":"https://openalex.org/C2781040256","wikidata":"https://www.wikidata.org/wiki/Q7316761","display_name":"Retinal degeneration","level":3,"score":0.47579678893089294},{"id":"https://openalex.org/C118487528","wikidata":"https://www.wikidata.org/wiki/Q161437","display_name":"Ophthalmology","level":1,"score":0.4270496964454651},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.4186718463897705},{"id":"https://openalex.org/C2780827179","wikidata":"https://www.wikidata.org/wiki/Q422001","display_name":"Retinal","level":2,"score":0.3806094229221344},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.3674134612083435},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.35076904296875},{"id":"https://openalex.org/C2781114197","wikidata":"https://www.wikidata.org/wiki/Q847057","display_name":"Retinitis pigmentosa","level":3,"score":0.34482210874557495},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.24299946427345276}],"mesh":[{"descriptor_ui":"D000081412","descriptor_name":"Myosin VIIa","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000293","descriptor_name":"Adolescent","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000328","descriptor_name":"Adult","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002648","descriptor_name":"Child","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002675","descriptor_name":"Child, Preschool","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D003623","descriptor_name":"Dark Adaptation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D004596","descriptor_name":"Electroretinography","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005260","descriptor_name":"Female","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":"D008297","descriptor_name":"Male","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008875","descriptor_name":"Middle Aged","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":"D009218","descriptor_name":"Myosins","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D010641","descriptor_name":"Phenotype","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D012162","descriptor_name":"Retinal Degeneration","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D012162","descriptor_name":"Retinal Degeneration","qualifier_ui":"Q000503","qualifier_name":"physiopathology","is_major_topic":true},{"descriptor_ui":"D014786","descriptor_name":"Vision Disorders","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D014786","descriptor_name":"Vision Disorders","qualifier_ui":"Q000503","qualifier_name":"physiopathology","is_major_topic":true},{"descriptor_ui":"D014794","descriptor_name":"Visual Fields","qualifier_ui":"Q000502","qualifier_name":"physiology","is_major_topic":true},{"descriptor_ui":"D020419","descriptor_name":"Photoreceptor Cells, Vertebrate","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false},{"descriptor_ui":"D041623","descriptor_name":"Tomography, Optical Coherence","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D052245","descriptor_name":"Usher Syndromes","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D052245","descriptor_name":"Usher Syndromes","qualifier_ui":"Q000503","qualifier_name":"physiopathology","is_major_topic":true},{"descriptor_ui":"D055815","descriptor_name":"Young Adult","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D058609","descriptor_name":"Visual Field Tests","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":3,"locations":[{"id":"doi:10.1167/iovs.11-8313","doi":"https://doi.org/10.1167/iovs.11-8313","is_oa":true,"landing_page_url":"https://doi.org/10.1167/iovs.11-8313","pdf_url":"https://iovs.arvojournals.org/arvo/content_public/journal/iovs/933458/z7g01111007924.pdf","source":{"id":"https://openalex.org/S76304953","display_name":"Investigative Ophthalmology & Visual Science","issn_l":"0146-0404","issn":["0146-0404","1552-5783"],"is_oa":false,"is_in_doaj":true,"is_core":true,"listed_in":["anvur-scientific","cwts-core","doaj","dongbi-c","doyens","jufo-2","ki-jl-2","medline","norway-2","oarl","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310321950","host_organization_name":"Cadmus Press","host_organization_lineage":["https://openalex.org/P4310321950"],"host_organization_lineage_names":["Cadmus Press"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Investigative Opthalmology &amp; Visual Science","raw_type":"journal-article"},{"id":"pmid:21873662","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/21873662","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":"Investigative ophthalmology & visual science","raw_type":"Journal Article"},{"id":"pmh:oai:pubmedcentral.nih.gov:3263772","doi":null,"is_oa":true,"landing_page_url":"https://pmc.ncbi.nlm.nih.gov/articles/PMC3263772/","pdf_url":null,"source":{"id":"https://openalex.org/S2764455111","display_name":"PubMed Central","issn_l":null,"issn":null,"is_oa":true,"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":"Invest Ophthalmol Vis Sci","raw_type":"Text"}],"best_oa_location":{"id":"doi:10.1167/iovs.11-8313","doi":"https://doi.org/10.1167/iovs.11-8313","is_oa":true,"landing_page_url":"https://doi.org/10.1167/iovs.11-8313","pdf_url":"https://iovs.arvojournals.org/arvo/content_public/journal/iovs/933458/z7g01111007924.pdf","source":{"id":"https://openalex.org/S76304953","display_name":"Investigative Ophthalmology & Visual Science","issn_l":"0146-0404","issn":["0146-0404","1552-5783"],"is_oa":false,"is_in_doaj":true,"is_core":true,"listed_in":["anvur-scientific","cwts-core","doaj","dongbi-c","doyens","jufo-2","ki-jl-2","medline","norway-2","oarl","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310321950","host_organization_name":"Cadmus Press","host_organization_lineage":["https://openalex.org/P4310321950"],"host_organization_lineage_names":["Cadmus Press"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Investigative Opthalmology &amp; Visual Science","raw_type":"journal-article"},"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","score":0.9537000060081482,"display_name":"Good health and well-being"}],"study_designs":[{"id":"https://openalex.org/study-designs/observational-study","display_name":"Observational Study"}],"awards":[{"id":"https://openalex.org/G7529329236","display_name":"RPE Cell Biology of Myosin VIIa","funder_award_id":"R01EY007042","funder_id":"https://openalex.org/F4320337350","funder_display_name":"National Eye Institute"},{"id":"https://openalex.org/G9000907202","display_name":"Vision Research Core at UCLA","funder_award_id":"P30EY000331","funder_id":"https://openalex.org/F4320337350","funder_display_name":"National Eye Institute"}],"funders":[{"id":"https://openalex.org/F4320309460","display_name":"Macula Vision Research Foundation","ror":"https://ror.org/03cpssz74"},{"id":"https://openalex.org/F4320312393","display_name":"Hope For Vision","ror":"https://ror.org/02yqjk243"},{"id":"https://openalex.org/F4320315647","display_name":"Chatlos Foundation","ror":"https://ror.org/038qkgs17"},{"id":"https://openalex.org/F4320337350","display_name":"National Eye Institute","ror":"https://ror.org/03wkg3b53"}],"has_content":{"pdf":true,"grobid_xml":true},"content_urls":{"pdf":"https://content.openalex.org/works/W1981489792.pdf","grobid_xml":"https://content.openalex.org/works/W1981489792.grobid-xml"},"referenced_works_count":64,"referenced_works":["https://openalex.org/W128305080","https://openalex.org/W130295812","https://openalex.org/W1544063520","https://openalex.org/W1560126620","https://openalex.org/W1573169726","https://openalex.org/W1606900855","https://openalex.org/W1667680871","https://openalex.org/W1968155207","https://openalex.org/W1968266458","https://openalex.org/W1970818599","https://openalex.org/W1971238719","https://openalex.org/W1972884804","https://openalex.org/W1974307148","https://openalex.org/W1976644659","https://openalex.org/W1977808261","https://openalex.org/W1979502357","https://openalex.org/W1981432109","https://openalex.org/W1985179535","https://openalex.org/W1999109674","https://openalex.org/W2006747587","https://openalex.org/W2014805096","https://openalex.org/W2015192222","https://openalex.org/W2019732697","https://openalex.org/W2022040013","https://openalex.org/W2023203754","https://openalex.org/W2033061260","https://openalex.org/W2034223507","https://openalex.org/W2038890593","https://openalex.org/W2039931976","https://openalex.org/W2040784183","https://openalex.org/W2041337667","https://openalex.org/W2043011906","https://openalex.org/W2050243894","https://openalex.org/W2051107434","https://openalex.org/W2056733048","https://openalex.org/W2056967728","https://openalex.org/W2058519386","https://openalex.org/W2060063409","https://openalex.org/W2064966510","https://openalex.org/W2078542170","https://openalex.org/W2078876833","https://openalex.org/W2080678254","https://openalex.org/W2082183420","https://openalex.org/W2085604808","https://openalex.org/W2087344433","https://openalex.org/W2088854035","https://openalex.org/W2091796111","https://openalex.org/W2113764519","https://openalex.org/W2115575740","https://openalex.org/W2117841202","https://openalex.org/W2120068370","https://openalex.org/W2124851578","https://openalex.org/W2127503223","https://openalex.org/W2131581981","https://openalex.org/W2136373330","https://openalex.org/W2155281294","https://openalex.org/W2155349225","https://openalex.org/W2162433873","https://openalex.org/W2164635241","https://openalex.org/W2166316982","https://openalex.org/W4247292500","https://openalex.org/W4250786601","https://openalex.org/W4285719527","https://openalex.org/W7073835961"],"related_works":["https://openalex.org/W1985179535","https://openalex.org/W2556261073","https://openalex.org/W2971570043","https://openalex.org/W4409628342","https://openalex.org/W1966370265","https://openalex.org/W2464575956","https://openalex.org/W7216632228","https://openalex.org/W4399738845","https://openalex.org/W2765948579","https://openalex.org/W1984946916"],"abstract_inverted_index":{"PURPOSE.":[0],"To":[1],"determine":[2],"the":[3,50,86,108,159,168,226],"disease":[4,75,179,198,222],"course":[5],"in":[6,85,107,127,149,156,158,171,181,223],"Usher":[7],"syndrome":[8],"type":[9],"IB":[10],"(USH1B)":[11],"caused":[12],"by":[13,33],"myosin":[14],"7A":[15],"(MYO7A)":[16],"gene":[17,215],"mutations.":[18],"METHODS.":[19],"USH1B":[20,182],"patients":[21,58,138,157],"(n":[22],"=":[23],"33,":[24],"ages":[25,245],"2-61)":[26],"representing":[27],"25":[28],"different":[29,83],"families":[30],"were":[31,53,144,165],"studied":[32],"ocular":[34],"examination,":[35],"kinetic":[36,64],"and":[37,43,97,114,142,239],"chromatic":[38],"static":[39],"perimetry,":[40],"dark":[41],"adaptometry,":[42],"optical":[44],"coherence":[45],"tomography":[46],"(OCT).":[47],"Consequences":[48],"of":[49,69,89,112,131,139,146,162,214],"mutant":[51,169],"alleles":[52,170,232],"predicted.":[54],"RESULTS.":[55],"All":[56],"MYO7A":[57,231],"had":[59],"severely":[60,117],"abnormal":[61],"ERGs,":[62],"but":[63,187],"fields":[65,190],"revealed":[66],"regional":[67],"patterns":[68],"visual":[70,189],"loss":[71],"that":[72,229],"suggested":[73],"a":[74,94,128,206],"sequence.":[76],"Rod-mediated":[77],"vision":[78,92,101],"could":[79,134,233],"be":[80,234],"lost":[81],"to":[82,105,191],"degrees":[84],"first":[87,109],"decades":[88,111],"life.":[90,163],"Cone":[91],"followed":[93],"more":[95,174,250],"predictable":[96],"slower":[98],"decline.":[99],"Central":[100],"ranged":[102],"from":[103,184],"normal":[104],"reduced":[106],"four":[110],"life":[113],"thereafter":[115],"was":[116,122,201],"abnormal.":[118],"Dark":[119],"adaptation":[120],"kinetics":[121],"normal.":[123],"Photoreceptor":[124],"layer":[125],"thickness":[126],"wide":[129],"region":[130],"central":[132,194],"retina":[133],"differ":[135],"dramatically":[136],"between":[137,167],"comparable":[140],"ages;":[141],"there":[143,200],"examples":[145],"severe":[147,175,251],"losses":[148,243],"childhood":[150],"as":[151,153],"well":[152],"relative":[154],"preservation":[155],"third":[160],"decade":[161],"Comparisons":[164],"made":[166],"mild":[172],"versus":[173],"phenotypes.":[176,252],"CONCLUSIONS.":[177],"A":[178],"sequence":[180],"leads":[183],"generally":[185],"full":[186],"impaired":[188],"residual":[192],"small":[193],"islands.":[195],"At":[196],"most":[197],"stages,":[199],"preserved":[202],"temporal":[203],"peripheral":[204],"field,":[205],"potential":[207],"target":[208],"for":[209],"early":[210],"phase":[211],"clinical":[212],"trials":[213],"therapy.":[216],"From":[217],"data":[218],"comparing":[219],"patients'":[220],"rod":[221],"this":[224],"cohort,":[225],"authors":[227],"speculate":[228],"null":[230],"associated":[235],"with":[236],"milder":[237],"dysfunction":[238],"fewer":[240],"photoreceptor":[241],"structural":[242],"at":[244],"when":[246],"other":[247],"genotypes":[248],"show":[249]},"counts_by_year":[{"year":2026,"cited_by_count":5},{"year":2025,"cited_by_count":5},{"year":2024,"cited_by_count":4},{"year":2023,"cited_by_count":5},{"year":2022,"cited_by_count":5},{"year":2021,"cited_by_count":8},{"year":2020,"cited_by_count":5},{"year":2019,"cited_by_count":5},{"year":2018,"cited_by_count":3},{"year":2017,"cited_by_count":9},{"year":2016,"cited_by_count":8},{"year":2015,"cited_by_count":4},{"year":2014,"cited_by_count":9},{"year":2013,"cited_by_count":10},{"year":2012,"cited_by_count":1}],"updated_date":"2026-11-10T11:39:43.021295","created_date":"2016-06-24T00:00:00"}
