{"id":"https://openalex.org/W4386476014","doi":"https://doi.org/10.3390/ijms241813756","title":"Gene Therapy in Hereditary Retinal Dystrophies: The Usefulness of Diagnostic Tools in Candidate Patient Selections","display_name":"Gene Therapy in Hereditary Retinal Dystrophies: The Usefulness of Diagnostic Tools in Candidate Patient Selections","publication_year":2023,"publication_date":"2023-09-06","ids":{"openalex":"https://openalex.org/W4386476014","doi":"https://doi.org/10.3390/ijms241813756","pmid":"https://pubmed.ncbi.nlm.nih.gov/37762059","pmcid":"https://www.ncbi.nlm.nih.gov/pmc/articles/10531171"},"language":"en","primary_location":{"id":"doi:10.3390/ijms241813756","doi":"https://doi.org/10.3390/ijms241813756","is_oa":true,"landing_page_url":"https://doi.org/10.3390/ijms241813756","pdf_url":"https://www.mdpi.com/1422-0067/24/18/13756/pdf?version=1693999989","source":{"id":"https://openalex.org/S10623703","display_name":"International Journal of Molecular Sciences","issn_l":"1422-0067","issn":["1422-0067","1661-6596"],"is_oa":true,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","medline","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310310987","host_organization_name":"Multidisciplinary Digital Publishing Institute","host_organization_lineage":["https://openalex.org/P4310310987"],"host_organization_lineage_names":["Multidisciplinary Digital Publishing Institute"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"International Journal of Molecular Sciences","raw_type":"journal-article"},"volume":null,"type":"review","is_traditional":true,"indexed_in":["crossref","pubmed"],"open_access":{"is_oa":true,"oa_status":"gold","oa_url":"https://www.mdpi.com/1422-0067/24/18/13756/pdf?version=1693999989","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5053505207","display_name":"Mariaelena Malvasi","orcid":"https://orcid.org/0000-0002-1190-9733","observed_orcids":["https://orcid.org/0000-0002-1190-9733"]},"institutions":[{"id":"https://openalex.org/I861853513","display_name":"Sapienza University of Rome","ror":"https://ror.org/02be6w209","country_code":"IT","type":"education","lineage":["https://openalex.org/I861853513"]}],"countries":["IT"],"is_corresponding":true,"raw_author_name":"Mariaelena Malvasi","raw_affiliation_strings":["Department of Sense Organs, Faculty of Medicine and Dentistry, Sapienza University of Rome, 00185 Rome, Italy"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Sense Organs, Faculty of Medicine and Dentistry, Sapienza University of Rome, 00185 Rome, Italy","institution_ids":["https://openalex.org/I861853513"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5046149065","display_name":"Lorenzo Casillo","orcid":"https://orcid.org/0000-0002-6265-5921","observed_orcids":["https://orcid.org/0000-0002-6265-5921"]},"institutions":[{"id":"https://openalex.org/I861853513","display_name":"Sapienza University of Rome","ror":"https://ror.org/02be6w209","country_code":"IT","type":"education","lineage":["https://openalex.org/I861853513"]}],"countries":["IT"],"is_corresponding":false,"raw_author_name":"Lorenzo Casillo","raw_affiliation_strings":["Department of Sense Organs, Faculty of Medicine and Dentistry, Sapienza University of Rome, 00185 Rome, Italy"],"raw_orcid":"https://orcid.org/0000-0002-6265-5921","affiliations":[{"raw_affiliation_string":"Department of Sense Organs, Faculty of Medicine and Dentistry, Sapienza University of Rome, 00185 Rome, Italy","institution_ids":["https://openalex.org/I861853513"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5083908285","display_name":"Filippo Avogaro","orcid":"https://orcid.org/0000-0002-7475-5145","observed_orcids":["https://orcid.org/0000-0002-7475-5145"]},"institutions":[{"id":"https://openalex.org/I861853513","display_name":"Sapienza University of Rome","ror":"https://ror.org/02be6w209","country_code":"IT","type":"education","lineage":["https://openalex.org/I861853513"]}],"countries":["IT"],"is_corresponding":false,"raw_author_name":"Filippo Avogaro","raw_affiliation_strings":["Department of Sense Organs, Faculty of Medicine and Dentistry, Sapienza University of Rome, 00185 Rome, Italy"],"raw_orcid":"https://orcid.org/0000-0002-7475-5145","affiliations":[{"raw_affiliation_string":"Department of Sense Organs, Faculty of Medicine and Dentistry, Sapienza University of Rome, 00185 Rome, Italy","institution_ids":["https://openalex.org/I861853513"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5061660167","display_name":"Alessandro Abbouda","orcid":"https://orcid.org/0000-0001-8582-4823","observed_orcids":["https://orcid.org/0000-0001-8582-4823"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Alessandro Abbouda","raw_affiliation_strings":["Department of Ophthalmology, Fiorini Hospital Terracina AUSL, 04019 Terracina, Italy"],"raw_orcid":"https://orcid.org/0000-0001-8582-4823","affiliations":[{"raw_affiliation_string":"Department of Ophthalmology, Fiorini Hospital Terracina AUSL, 04019 Terracina, Italy","institution_ids":[]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5011699494","display_name":"Enzo Maria Vingolo","orcid":"https://orcid.org/0000-0002-8363-5866","observed_orcids":["https://orcid.org/0000-0002-8363-5866"]},"institutions":[{"id":"https://openalex.org/I861853513","display_name":"Sapienza University of Rome","ror":"https://ror.org/02be6w209","country_code":"IT","type":"education","lineage":["https://openalex.org/I861853513"]}],"countries":["IT"],"is_corresponding":false,"raw_author_name":"Enzo Maria Vingolo","raw_affiliation_strings":["Department of Ophthalmology, Fiorini Hospital Terracina AUSL, 04019 Terracina, Italy","Department of Sense Organs, Faculty of Medicine and Dentistry, Sapienza University of Rome, 00185 Rome, Italy"],"raw_orcid":"https://orcid.org/0000-0002-8363-5866","affiliations":[{"raw_affiliation_string":"Department of Ophthalmology, Fiorini Hospital Terracina AUSL, 04019 Terracina, Italy","institution_ids":[]},{"raw_affiliation_string":"Department of Sense Organs, Faculty of Medicine and Dentistry, Sapienza University of Rome, 00185 Rome, Italy","institution_ids":["https://openalex.org/I861853513"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":1,"corresponding_author_ids":["https://openalex.org/A5053505207"],"corresponding_institution_ids":["https://openalex.org/I861853513"],"apc_list":{"value":2500,"currency":"CHF","value_usd":2780},"apc_paid":{"value":2500,"currency":"CHF","value_usd":2780},"fwci":1.0102,"has_fulltext":true,"cited_by_count":22,"citation_normalized_percentile":{"value":0.68186004,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":93,"max":99},"biblio":{"volume":"24","issue":"18","first_page":"13756","last_page":"13756"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10691","display_name":"Retinal Development and Disorders","score":0.9980000257492065,"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":0.9980000257492065,"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/T10613","display_name":"Virus-based gene therapy research","score":0.00039999998989515007,"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/T10170","display_name":"Retinal Diseases and Treatments","score":0.0003000000142492354,"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/gene-therapy","display_name":"gene therapy","score":0.9269999861717224},{"id":"https://openalex.org/keywords/inherited-retinal-disease","display_name":"inherited retinal disease","score":0.8790000081062317},{"id":"https://openalex.org/keywords/leber-congenital-amaurosis","display_name":"Leber congenital amaurosis","score":0.9150000214576721},{"id":"https://openalex.org/keywords/rpe65","display_name":"RPE65","score":0.7979999780654907},{"id":"https://openalex.org/keywords/voretigene-neparvovec","display_name":"voretigene neparvovec","score":0.949999988079071},{"id":"https://openalex.org/keywords/patient-selection","display_name":"patient selection","score":0.8389999866485596},{"id":"https://openalex.org/keywords/diagnostic-tools","display_name":"diagnostic tools","score":0.6230000257492065},{"id":"https://openalex.org/keywords/retinal-function-testing","display_name":"retinal function testing","score":0.5379999876022339},{"id":"https://openalex.org/keywords/genotype-phenotype-correlation","display_name":"genotype-phenotype correlation","score":0.8059999942779541},{"id":"https://openalex.org/keywords/retinitis-pigmentosa","display_name":"retinitis pigmentosa","score":0.8050000071525574},{"id":"https://openalex.org/keywords/congenital-stationary-night-blindness","display_name":"congenital stationary night blindness","score":0.7379999756813049},{"id":"https://openalex.org/keywords/usher-syndrome","display_name":"Usher syndrome","score":0.8360000252723694},{"id":"https://openalex.org/keywords/bardet-biedl-syndrome","display_name":"Bardet-Biedl syndrome","score":0.9480000138282776}],"concepts":[{"id":"https://openalex.org/C111599444","wikidata":"https://www.wikidata.org/wiki/Q213901","display_name":"Genetic enhancement","level":3,"score":0.5268646478652954},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.46676725149154663},{"id":"https://openalex.org/C2780827179","wikidata":"https://www.wikidata.org/wiki/Q422001","display_name":"Retinal","level":2,"score":0.4535267949104309},{"id":"https://openalex.org/C60644358","wikidata":"https://www.wikidata.org/wiki/Q128570","display_name":"Bioinformatics","level":1,"score":0.43581920862197876},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.419162392616272},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.417715847492218},{"id":"https://openalex.org/C69991583","wikidata":"https://www.wikidata.org/wiki/Q1423575","display_name":"Candidate gene","level":3,"score":0.41114574670791626},{"id":"https://openalex.org/C70721500","wikidata":"https://www.wikidata.org/wiki/Q177005","display_name":"Computational biology","level":1,"score":0.4085424542427063},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.3697896897792816},{"id":"https://openalex.org/C118487528","wikidata":"https://www.wikidata.org/wiki/Q161437","display_name":"Ophthalmology","level":1,"score":0.317385196685791}],"mesh":[{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D012160","descriptor_name":"Retina","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D015316","descriptor_name":"Genetic Therapy","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D018579","descriptor_name":"Patient Selection","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D057130","descriptor_name":"Leber Congenital Amaurosis","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":true},{"descriptor_ui":"D057130","descriptor_name":"Leber Congenital Amaurosis","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D057130","descriptor_name":"Leber Congenital Amaurosis","qualifier_ui":"Q000628","qualifier_name":"therapy","is_major_topic":true},{"descriptor_ui":"D058499","descriptor_name":"Retinal Dystrophies","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":true},{"descriptor_ui":"D058499","descriptor_name":"Retinal Dystrophies","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D058499","descriptor_name":"Retinal Dystrophies","qualifier_ui":"Q000628","qualifier_name":"therapy","is_major_topic":true}],"locations_count":4,"locations":[{"id":"doi:10.3390/ijms241813756","doi":"https://doi.org/10.3390/ijms241813756","is_oa":true,"landing_page_url":"https://doi.org/10.3390/ijms241813756","pdf_url":"https://www.mdpi.com/1422-0067/24/18/13756/pdf?version=1693999989","source":{"id":"https://openalex.org/S10623703","display_name":"International Journal of Molecular Sciences","issn_l":"1422-0067","issn":["1422-0067","1661-6596"],"is_oa":true,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","medline","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310310987","host_organization_name":"Multidisciplinary Digital Publishing Institute","host_organization_lineage":["https://openalex.org/P4310310987"],"host_organization_lineage_names":["Multidisciplinary Digital Publishing Institute"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"International Journal of Molecular Sciences","raw_type":"journal-article"},{"id":"pmh:oai:pubmedcentral.nih.gov:10531171","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/10531171","pdf_url":"https://pmc.ncbi.nlm.nih.gov/articles/PMC10531171/pdf/ijms-24-13756.pdf","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":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Int J Mol Sci","raw_type":"Text"},{"id":"pmid:37762059","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/37762059","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":"International journal of molecular sciences","raw_type":"Journal Article"},{"id":"pmh:oai:iris.uniroma1.it:11573/1687740","doi":null,"is_oa":true,"landing_page_url":"https://hdl.handle.net/11573/1687740","pdf_url":"https://iris.uniroma1.it/bitstream/11573/1687740/1/Malvasi_Gene%20therapy_2023.pdf","source":{"id":"https://openalex.org/S4377196107","display_name":"IRIS Research product catalog (Sapienza University of Rome)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":null,"raw_type":"info:eu-repo/semantics/article"}],"best_oa_location":{"id":"doi:10.3390/ijms241813756","doi":"https://doi.org/10.3390/ijms241813756","is_oa":true,"landing_page_url":"https://doi.org/10.3390/ijms241813756","pdf_url":"https://www.mdpi.com/1422-0067/24/18/13756/pdf?version=1693999989","source":{"id":"https://openalex.org/S10623703","display_name":"International Journal of Molecular Sciences","issn_l":"1422-0067","issn":["1422-0067","1661-6596"],"is_oa":true,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","medline","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310310987","host_organization_name":"Multidisciplinary Digital Publishing Institute","host_organization_lineage":["https://openalex.org/P4310310987"],"host_organization_lineage_names":["Multidisciplinary Digital Publishing Institute"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"International Journal of Molecular Sciences","raw_type":"journal-article"},"sustainable_development_goals":[{"score":0.98580002784729,"display_name":"Good health and well-being","id":"https://metadata.un.org/sdg/3"}],"study_designs":[],"awards":[],"funders":[],"has_content":{"grobid_xml":true,"pdf":true},"content_urls":{"pdf":"https://content.openalex.org/works/W4386476014.pdf","grobid_xml":"https://content.openalex.org/works/W4386476014.grobid-xml"},"referenced_works_count":140,"referenced_works":["https://openalex.org/W16123401","https://openalex.org/W62599577","https://openalex.org/W265142245","https://openalex.org/W778646666","https://openalex.org/W807932216","https://openalex.org/W1507327514","https://openalex.org/W1599796644","https://openalex.org/W1850657797","https://openalex.org/W1901441295","https://openalex.org/W1970654757","https://openalex.org/W1970799201","https://openalex.org/W1971238719","https://openalex.org/W1974006653","https://openalex.org/W1977808261","https://openalex.org/W1981489792","https://openalex.org/W1984017781","https://openalex.org/W1985179535","https://openalex.org/W1995937464","https://openalex.org/W1996485763","https://openalex.org/W1999109674","https://openalex.org/W2002914110","https://openalex.org/W2008846006","https://openalex.org/W2008851150","https://openalex.org/W2012101359","https://openalex.org/W2014624027","https://openalex.org/W2015153021","https://openalex.org/W2015192222","https://openalex.org/W2018875515","https://openalex.org/W2018953310","https://openalex.org/W2021376912","https://openalex.org/W2022040013","https://openalex.org/W2026025022","https://openalex.org/W2028229473","https://openalex.org/W2029584153","https://openalex.org/W2031964961","https://openalex.org/W2038210032","https://openalex.org/W2041485433","https://openalex.org/W2044000602","https://openalex.org/W2044995136","https://openalex.org/W2050040558","https://openalex.org/W2054158396","https://openalex.org/W2060063409","https://openalex.org/W2063016432","https://openalex.org/W2064531620","https://openalex.org/W2064583550","https://openalex.org/W2072341533","https://openalex.org/W2072970856","https://openalex.org/W2073681930","https://openalex.org/W2078444266","https://openalex.org/W2078687029","https://openalex.org/W2082211576","https://openalex.org/W2084755007","https://openalex.org/W2087344433","https://openalex.org/W2092670526","https://openalex.org/W2094808774","https://openalex.org/W2095176102","https://openalex.org/W2098207011","https://openalex.org/W2098689523","https://openalex.org/W2103696198","https://openalex.org/W2110139316","https://openalex.org/W2113764519","https://openalex.org/W2115575740","https://openalex.org/W2116369307","https://openalex.org/W2117841202","https://openalex.org/W2120068370","https://openalex.org/W2128418445","https://openalex.org/W2136083637","https://openalex.org/W2137222303","https://openalex.org/W2142904179","https://openalex.org/W2147194233","https://openalex.org/W2148410227","https://openalex.org/W2151809142","https://openalex.org/W2152853777","https://openalex.org/W2156253346","https://openalex.org/W2158422450","https://openalex.org/W2162290849","https://openalex.org/W2164635241","https://openalex.org/W2231968663","https://openalex.org/W2253755643","https://openalex.org/W2255190151","https://openalex.org/W2288966434","https://openalex.org/W2312086209","https://openalex.org/W2318551484","https://openalex.org/W2322217354","https://openalex.org/W2323030383","https://openalex.org/W2333154330","https://openalex.org/W2339001755","https://openalex.org/W2407633088","https://openalex.org/W2411345081","https://openalex.org/W2467346209","https://openalex.org/W2473832992","https://openalex.org/W2502954326","https://openalex.org/W2528178831","https://openalex.org/W2552930857","https://openalex.org/W2558953008","https://openalex.org/W2563610545","https://openalex.org/W2582113121","https://openalex.org/W2599726819","https://openalex.org/W2729411160","https://openalex.org/W2736065260","https://openalex.org/W2736625713","https://openalex.org/W2759013304","https://openalex.org/W2765546849","https://openalex.org/W2769989706","https://openalex.org/W2792727567","https://openalex.org/W2794919915","https://openalex.org/W2795742690","https://openalex.org/W2896231323","https://openalex.org/W2912405300","https://openalex.org/W2916239523","https://openalex.org/W2941471504","https://openalex.org/W2950242413","https://openalex.org/W2952178822","https://openalex.org/W2971463685","https://openalex.org/W3008621511","https://openalex.org/W3008742929","https://openalex.org/W3009940848","https://openalex.org/W3024017351","https://openalex.org/W3027849004","https://openalex.org/W3036000399","https://openalex.org/W3088228957","https://openalex.org/W3107193617","https://openalex.org/W3107549158","https://openalex.org/W3117726198","https://openalex.org/W3129046599","https://openalex.org/W3134225131","https://openalex.org/W3137643289","https://openalex.org/W3164571994","https://openalex.org/W3172140999","https://openalex.org/W3193593613","https://openalex.org/W4200481996","https://openalex.org/W4210863261","https://openalex.org/W4211139356","https://openalex.org/W4284884007","https://openalex.org/W4291465575","https://openalex.org/W4296400800","https://openalex.org/W4296794008","https://openalex.org/W4297224647","https://openalex.org/W4310370775","https://openalex.org/W6677682360"],"related_works":["https://openalex.org/W3157769326","https://openalex.org/W2896913082","https://openalex.org/W3177509185","https://openalex.org/W3130767612","https://openalex.org/W3033244330","https://openalex.org/W3110503195","https://openalex.org/W4221094051","https://openalex.org/W2793446133","https://openalex.org/W3205685609","https://openalex.org/W2117534448"],"abstract_inverted_index":{"PURPOSE:":[0],"Gene":[1],"therapy":[2,292,316,588],"actually":[3],"seems":[4],"to":[5,30,44,62,97,117,135,219,258,263,271,285,330,339,358,364,385,393,401,423,437,454,486,530,564,569,586,611],"have":[6],"promising":[7],"results":[8,88,609],"in":[9,40,77,223,237,296,334,347,362,479,517,579,597],"the":[10,23,49,63,74,86,103,122,137,140,170,177,220,225,234,244,247,265,273,277,308,331,365,379,388,434,504,531,541,549,562],"treatment":[11,87,332,406,599],"of":[12,26,48,65,73,100,108,128,189,211,246,299,307,367,374,433,451,492,503,520,548,551,607],"Leber":[13,81,181],"Congenital":[14,82,182,197],"Amaurosis":[15,83,183],"and":[16,91,105,202,243,268,310,407,412,430,458,468,472,494,511,526,593],"some":[17,187],"different":[18,154,221,372,518],"inherited":[19,300],"retinal":[20,57,129,238,301,456,527,613],"diseases":[21,155],"(IRDs);":[22],"primary":[24,477],"goal":[25],"this":[27,241,336,348],"strategy":[28],"is":[29,142,230,317,378,418,485],"change":[31],"gene":[32,37,76,149,179,288,291,315,360,443,499,532,587],"defects":[33,39],"with":[34,92,206,287,303,322,410,440,589,619],"a":[35,41,66,98,143,147,207,353,449,476,537,566,601],"wild-type":[36],"without":[38],"DNA":[42],"sequence":[43],"achieve":[45,570],"partial":[46],"recovery":[47],"photoreceptor":[50],"function":[51,341,459],"and,":[52,232,342,559],"consequently,":[53,233,560],"partially":[54],"restore":[55],"lost":[56],"functions.":[58],"This":[59,445],"approach":[60,337],"led":[61],"introduction":[64],"new":[67],"drug":[68,248],"(voretigene":[69],"neparvovec-rzyl)":[70],"for":[71,146,320,370,382,405,442,540],"replacement":[72],"RPE65":[75,178],"patients":[78,270,321,439,582],"affected":[79],"by":[80],"(LCA);":[84],"however,":[85],"are":[89,217,280,427,576],"inconstant":[90,162],"variable":[93],"long-lasting":[94],"effects":[95,328],"due":[96,218,329,610],"lack":[99],"correctly":[101,386],"evaluating":[102],"anatomical":[104],"functional":[106,312],"conditions":[107,313],"residual":[109],"photoreceptors.":[110],"These":[111,214,574],"variabilities":[112],"may":[113],"also":[114,168,186],"be":[115,256,294,352],"related":[116],"host":[118],"immunoreactive":[119],"reactions":[120],"towards":[121],"Adenovirus-associated":[123],"vector.":[124],"A":[125,482],"broad":[126],"spectrum":[127,210],"dystrophies":[130],"frequently":[131],"generates":[132],"doubt":[133],"as":[134,463,475],"whether":[136],"disease":[138,267,309,354],"or":[139,261,356,604],"patient":[141,357,617],"good":[144],"candidate":[145,269,355,403],"successful":[148],"treatment,":[150],"because,":[151],"very":[152,208,577],"often,":[153,417],"share":[156],"similar":[157],"genetic":[158,413],"characteristics,":[159],"causing":[160],"an":[161,428,488],"genotype/phenotype":[163],"correlation":[164],"between":[165],"clinical":[166,212,368,395,411,435,480,490,525,542,572],"characteristics":[167],"within":[169],"same":[171],"family.":[172],"For":[173],"example,":[174],"mutations":[175],"on":[176,397,498,524,545],"cause":[180],"(LCA)":[184],"but":[185],"forms":[188,298,373,519],"Retinitis":[190],"Pigmentosa":[191],"(RP),":[192],"Bardet":[193],"Biedl":[194],"Syndrome":[195],"(BBS),":[196],"Stationary":[198],"Night":[199],"Blindness":[200],"(CSNB)":[201],"Usher":[203],"syndrome":[204],"(USH),":[205],"wide":[209],"manifestations.":[213],"confusing":[215],"elements":[216],"pathways":[222],"which":[224,335,425,553,598],"product":[226],"protein":[227],"(retinoid":[228],"isomer-hydrolase)":[229],"involved":[231],"overlapping":[235],"metabolism":[236],"function.":[239],"Considering":[240],"point":[242],"cost":[245],"(over":[249],"USD":[250],"one":[251],"hundred":[252],"thousand),":[253],"it":[254],"would":[255],"mandatory":[257],"follow":[259],"guidelines":[260],"algorithms":[262],"assess":[264,402],"best-fitting":[266],"maximize":[272],"output.":[274],"Unfortunately,":[275],"at":[276],"moment,":[278],"there":[279],"no":[281,605],"suggestions":[282],"regarding":[283],"who":[284,350,583],"treat":[286],"therapy.":[289,444],"Moreover,":[290],"might":[293,351,584],"helpful":[295,578],"other":[297],"dystrophies,":[302],"more":[304],"frequent":[305],"incidence":[306],"better":[311,340],"(actually,":[314],"proposed":[318],"only":[319],"poor":[323],"vision,":[324],"considering":[325],"possible":[326,590],"side":[327],"procedures),":[333],"leads":[338],"hopefully,":[343],"visual":[344,512],"restoration.":[345],"But,":[346],"view,":[349],"undergo":[359],"therapy,":[361],"relationship":[363],"onset":[366],"trials":[369],"several":[371],"IRD?":[375],"Further,":[376],"what":[377],"gold":[380],"standard":[381],"tests":[383,400],"able":[384],"select":[387,438],"patient?":[389],"Our":[390],"work":[391],"aims":[392],"evaluate":[394],"considerations":[396,575],"instrumental":[398],"morphofunctional":[399,546],"subjects":[404],"correlate":[408],"them":[409],"defect":[414,533],"analysis":[415],"that,":[416],"not":[419],"correspondent.":[420],"We":[421],"try":[422],"define":[424],"parameters":[426],"essential":[429],"indispensable":[431],"part":[432],"rationale":[436],"IRDs":[441,493],"review":[446],"will":[447],"describe":[448],"series":[450],"models":[452],"used":[453],"characterize":[455],"morphology":[457],"from":[460],"tests,":[461],"such":[462],"optical":[464],"coherence":[465],"tomography":[466],"(OCT)":[467],"electrophysiological":[469],"evaluation":[470,474],"(ERG),":[471],"its":[473],"outcome":[478],"trials.":[481],"secondary":[483],"aim":[484],"propose":[487],"ancillary":[489],"classification":[491,543],"their":[495],"accessibility":[496],"based":[497,523,544],"therapy's":[500],"current":[501],"state":[502],"art.":[505],"MATERIAL":[506],"AND":[507],"METHODS:":[508],"OCT,":[509],"ERG,":[510],"field":[513],"examinations":[514],"were":[515],"performed":[516],"IRDs,":[521],"classified":[522],"conditions;":[528],"compared":[529],"classification,":[534],"we":[535],"utilized":[536],"diagnostic":[538,557],"algorithm":[539],"information":[547],"retina":[550],"patients,":[552],"could":[554],"significantly":[555],"improve":[556],"accuracy":[558],"help":[561],"ophthalmologist":[563],"make":[565],"correct":[567],"diagnosis":[568],"optimal":[571],"results.":[573,621],"selecting":[580],"IRD":[581],"respond":[585],"therapeutic":[591],"success":[592],"filter":[594],"out":[595],"those":[596],"has":[600],"lower":[602],"chance":[603,606],"positive":[608],"bad":[612],"conditions,":[614],"avoiding":[615],"time-consuming":[616],"management":[618],"unsatisfactory":[620]},"counts_by_year":[{"year":2026,"cited_by_count":4},{"year":2025,"cited_by_count":12},{"year":2024,"cited_by_count":4},{"year":2023,"cited_by_count":2}],"updated_date":"2026-11-07T11:25:07.637180","created_date":"2023-09-07T00:00:00"}
