{"id":"https://openalex.org/W4386026041","doi":"https://doi.org/10.1097/icb.0000000000001476","title":"MULTIMODAL RETINAL IMAGING FINDINGS IN HARDIKAR SYNDROME","display_name":"MULTIMODAL RETINAL IMAGING FINDINGS IN HARDIKAR SYNDROME","publication_year":2023,"publication_date":"2023-08-21","ids":{"openalex":"https://openalex.org/W4386026041","doi":"https://doi.org/10.1097/icb.0000000000001476","pmid":"https://pubmed.ncbi.nlm.nih.gov/37603453"},"language":"en","primary_location":{"id":"doi:10.1097/icb.0000000000001476","doi":"https://doi.org/10.1097/icb.0000000000001476","is_oa":false,"landing_page_url":"https://doi.org/10.1097/icb.0000000000001476","pdf_url":null,"source":{"id":"https://openalex.org/S15540642","display_name":"Retinal Cases & Brief Reports","issn_l":"1935-1089","issn":["1935-1089","1937-1578"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","jufo-1","medline","poland-40","russia-white-list-2"],"host_organization":"https://openalex.org/P4310315671","host_organization_name":"Lippincott Williams & Wilkins","host_organization_lineage":["https://openalex.org/P4310315671","https://openalex.org/P4310318547"],"host_organization_lineage_names":["Lippincott Williams & Wilkins","Wolters Kluwer"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"RETINAL Cases &amp; Brief Reports","raw_type":"journal-article"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["crossref","pubmed"],"open_access":{"is_oa":false,"oa_status":"closed","oa_url":null,"any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5053626855","display_name":"Olufemi E. Adams","orcid":"https://orcid.org/0000-0002-2016-2993","observed_orcids":["https://orcid.org/0000-0002-2016-2993"]},"institutions":[{"id":"https://openalex.org/I130238516","display_name":"University of Minnesota","ror":"https://ror.org/017zqws13","country_code":"US","type":"education","lineage":["https://openalex.org/I130238516"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Olufemi E. Adams","raw_affiliation_strings":["Department of Ophthalmology and Visual Neurosciences, University of Minnesota, Minneapolis, Minnesota;","Department of Ophthalmology and Visual Neurosciences, University of Minnesota, 516 Delaware Street SE, Minneapolis, MN, 55455"],"raw_orcid":"https://orcid.org/0000-0002-2016-2993","affiliations":[{"raw_affiliation_string":"Department of Ophthalmology and Visual Neurosciences, University of Minnesota, Minneapolis, Minnesota;","institution_ids":["https://openalex.org/I130238516"]},{"raw_affiliation_string":"Department of Ophthalmology and Visual Neurosciences, University of Minnesota, 516 Delaware Street SE, Minneapolis, MN, 55455","institution_ids":["https://openalex.org/I130238516"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5065177515","display_name":"Olufunmilola Adeleye","orcid":"https://orcid.org/0000-0003-2657-7054","observed_orcids":["https://orcid.org/0000-0003-2657-7054"]},"institutions":[{"id":"https://openalex.org/I1330342723","display_name":"Mayo Clinic","ror":"https://ror.org/02qp3tb03","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1330342723"]},{"id":"https://openalex.org/I4210125099","display_name":"Mayo Clinic in Arizona","ror":"https://ror.org/03jp40720","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1330342723","https://openalex.org/I4210125099"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Olufunmilola Adeleye","raw_affiliation_strings":["Mayo Clinic Alix School of Medicine, Scottsdale, Arizona; and","Mayo Clinic Alix School of Medicine, 13400 E Shea Boulevard, Scottsdale, AZ, 85259"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Mayo Clinic Alix School of Medicine, Scottsdale, Arizona; and","institution_ids":["https://openalex.org/I4210125099"]},{"raw_affiliation_string":"Mayo Clinic Alix School of Medicine, 13400 E Shea Boulevard, Scottsdale, AZ, 85259","institution_ids":["https://openalex.org/I1330342723","https://openalex.org/I4210125099"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5086093649","display_name":"Musse Hussein","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I130238516","display_name":"University of Minnesota","ror":"https://ror.org/017zqws13","country_code":"US","type":"education","lineage":["https://openalex.org/I130238516"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Musse Hussein","raw_affiliation_strings":["Department of Ophthalmology and Visual Neurosciences, University of Minnesota, Minneapolis, Minnesota;","Department of Ophthalmology and Visual Neurosciences, University of Minnesota, 516 Delaware Street SE, Minneapolis, MN, 55455"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Ophthalmology and Visual Neurosciences, University of Minnesota, Minneapolis, Minnesota;","institution_ids":["https://openalex.org/I130238516"]},{"raw_affiliation_string":"Department of Ophthalmology and Visual Neurosciences, University of Minnesota, 516 Delaware Street SE, Minneapolis, MN, 55455","institution_ids":["https://openalex.org/I130238516"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5029232159","display_name":"Ameay V. Naravane","orcid":"https://orcid.org/0000-0003-2570-7857","observed_orcids":["https://orcid.org/0000-0003-2570-7857"]},"institutions":[{"id":"https://openalex.org/I130238516","display_name":"University of Minnesota","ror":"https://ror.org/017zqws13","country_code":"US","type":"education","lineage":["https://openalex.org/I130238516"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Ameay Naravane","raw_affiliation_strings":["Department of Ophthalmology and Visual Neurosciences, University of Minnesota, Minneapolis, Minnesota;","Department of Ophthalmology and Visual Neurosciences, University of Minnesota, 516 Delaware Street SE, Minneapolis, MN, 55455"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Ophthalmology and Visual Neurosciences, University of Minnesota, Minneapolis, Minnesota;","institution_ids":["https://openalex.org/I130238516"]},{"raw_affiliation_string":"Department of Ophthalmology and Visual Neurosciences, University of Minnesota, 516 Delaware Street SE, Minneapolis, MN, 55455","institution_ids":["https://openalex.org/I130238516"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5021580695","display_name":"Tyler Looysen","orcid":"https://orcid.org/0000-0001-8235-8628","observed_orcids":["https://orcid.org/0000-0001-8235-8628"]},"institutions":[{"id":"https://openalex.org/I130238516","display_name":"University of Minnesota","ror":"https://ror.org/017zqws13","country_code":"US","type":"education","lineage":["https://openalex.org/I130238516"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Tyler Looysen","raw_affiliation_strings":["Department of Ophthalmology and Visual Neurosciences, University of Minnesota, Minneapolis, Minnesota;","Department of Ophthalmology and Visual Neurosciences, University of Minnesota, 516 Delaware Street SE, Minneapolis, MN, 55455"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Ophthalmology and Visual Neurosciences, University of Minnesota, Minneapolis, Minnesota;","institution_ids":["https://openalex.org/I130238516"]},{"raw_affiliation_string":"Department of Ophthalmology and Visual Neurosciences, University of Minnesota, 516 Delaware Street SE, Minneapolis, MN, 55455","institution_ids":["https://openalex.org/I130238516"]}]},{"author_position":"middle","author":{"id":null,"display_name":"Michael A. Simmons","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I130238516","display_name":"University of Minnesota","ror":"https://ror.org/017zqws13","country_code":"US","type":"education","lineage":["https://openalex.org/I130238516"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Michael A. Simmons","raw_affiliation_strings":["Department of Ophthalmology and Visual Neurosciences, University of Minnesota, Minneapolis, Minnesota;","Department of Ophthalmology and Visual Neurosciences, University of Minnesota, 516 Delaware Street SE, Minneapolis, MN, 55455"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Ophthalmology and Visual Neurosciences, University of Minnesota, Minneapolis, Minnesota;","institution_ids":["https://openalex.org/I130238516"]},{"raw_affiliation_string":"Department of Ophthalmology and Visual Neurosciences, University of Minnesota, 516 Delaware Street SE, Minneapolis, MN, 55455","institution_ids":["https://openalex.org/I130238516"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5006921023","display_name":"Peter H. Tang","orcid":"https://orcid.org/0000-0002-4516-4880","observed_orcids":["https://orcid.org/0000-0002-4516-4880"]},"institutions":[{"id":"https://openalex.org/I130238516","display_name":"University of Minnesota","ror":"https://ror.org/017zqws13","country_code":"US","type":"education","lineage":["https://openalex.org/I130238516"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Peter H. Tang","raw_affiliation_strings":["Department of Ophthalmology and Visual Neurosciences, University of Minnesota, Minneapolis, Minnesota;","Retina Consultants of Minnesota, Edina, Minnesota","Department of Ophthalmology and Visual Neurosciences, University of Minnesota, 516 Delaware Street SE, Minneapolis, MN, 55455","Retina Consultants of Minnesota, 3601 West 76Street, Suite 300, Edina, MN 55435"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Ophthalmology and Visual Neurosciences, University of Minnesota, Minneapolis, Minnesota;","institution_ids":["https://openalex.org/I130238516"]},{"raw_affiliation_string":"Retina Consultants of Minnesota, Edina, Minnesota","institution_ids":[]},{"raw_affiliation_string":"Department of Ophthalmology and Visual Neurosciences, University of Minnesota, 516 Delaware Street SE, Minneapolis, MN, 55455","institution_ids":["https://openalex.org/I130238516"]},{"raw_affiliation_string":"Retina Consultants of Minnesota, 3601 West 76Street, Suite 300, Edina, MN 55435","institution_ids":[]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5060042903","display_name":"Sandra Rocio Montezuma","orcid":"https://orcid.org/0000-0003-3731-8082","observed_orcids":["https://orcid.org/0000-0003-3731-8082"]},"institutions":[{"id":"https://openalex.org/I130238516","display_name":"University of Minnesota","ror":"https://ror.org/017zqws13","country_code":"US","type":"education","lineage":["https://openalex.org/I130238516"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Sandra R. Montezuma","raw_affiliation_strings":["Department of Ophthalmology and Visual Neurosciences, University of Minnesota, Minneapolis, Minnesota;","Department of Ophthalmology and Visual Neurosciences, University of Minnesota, 516 Delaware Street SE, Minneapolis, MN, 55455"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Ophthalmology and Visual Neurosciences, University of Minnesota, Minneapolis, Minnesota;","institution_ids":["https://openalex.org/I130238516"]},{"raw_affiliation_string":"Department of Ophthalmology and Visual Neurosciences, University of Minnesota, 516 Delaware Street SE, Minneapolis, MN, 55455","institution_ids":["https://openalex.org/I130238516"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":3,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":null,"apc_paid":null,"fwci":0.4288,"has_fulltext":false,"cited_by_count":2,"citation_normalized_percentile":{"value":0.56530711,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":89,"max":95},"biblio":{"volume":"18","issue":"6","first_page":"707","last_page":"711"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10691","display_name":"Retinal Development and Disorders","score":0.9473000168800354,"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":0.9473000168800354,"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":0.041999999433755875,"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":0.0017999999690800905,"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/med12-mutation","display_name":"MED12 mutation","score":0.8820000290870667},{"id":"https://openalex.org/keywords/retinal-pigment-epithelium-degeneration","display_name":"retinal pigment epithelium degeneration","score":0.9430000185966492},{"id":"https://openalex.org/keywords/chorioretinal-atrophy","display_name":"chorioretinal atrophy","score":0.8880000114440918},{"id":"https://openalex.org/keywords/choroidal-neovascularization","display_name":"choroidal neovascularization","score":0.8939999938011169},{"id":"https://openalex.org/keywords/retinitis-pigmentosa","display_name":"retinitis pigmentosa","score":0.890999972820282},{"id":"https://openalex.org/keywords/choroidal-neovascular-membrane","display_name":"choroidal neovascular membrane","score":0.6579999923706055}],"concepts":[{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.853717565536499},{"id":"https://openalex.org/C118487528","wikidata":"https://www.wikidata.org/wiki/Q161437","display_name":"Ophthalmology","level":1,"score":0.6972086429595947},{"id":"https://openalex.org/C2778024200","wikidata":"https://www.wikidata.org/wiki/Q2346242","display_name":"Retinal pigment epithelium","level":3,"score":0.6559019088745117},{"id":"https://openalex.org/C2780248432","wikidata":"https://www.wikidata.org/wiki/Q1434206","display_name":"Fluorescein angiography","level":3,"score":0.6447211503982544},{"id":"https://openalex.org/C2780827179","wikidata":"https://www.wikidata.org/wiki/Q422001","display_name":"Retinal","level":2,"score":0.5776784420013428},{"id":"https://openalex.org/C2776403814","wikidata":"https://www.wikidata.org/wiki/Q27429789","display_name":"Macular degeneration","level":2,"score":0.5738300085067749},{"id":"https://openalex.org/C2776391266","wikidata":"https://www.wikidata.org/wiki/Q9612","display_name":"Fundus (uterus)","level":2,"score":0.5473780632019043},{"id":"https://openalex.org/C2778818243","wikidata":"https://www.wikidata.org/wiki/Q899552","display_name":"Optical coherence tomography","level":2,"score":0.48645660281181335},{"id":"https://openalex.org/C2781114197","wikidata":"https://www.wikidata.org/wiki/Q847057","display_name":"Retinitis pigmentosa","level":3,"score":0.46915045380592346},{"id":"https://openalex.org/C2777093970","wikidata":"https://www.wikidata.org/wiki/Q169342","display_name":"Retina","level":2,"score":0.4674466848373413},{"id":"https://openalex.org/C2781065829","wikidata":"https://www.wikidata.org/wiki/Q905662","display_name":"Indocyanine green","level":2,"score":0.4598122537136078},{"id":"https://openalex.org/C142724271","wikidata":"https://www.wikidata.org/wiki/Q7208","display_name":"Pathology","level":1,"score":0.2716909646987915},{"id":"https://openalex.org/C120665830","wikidata":"https://www.wikidata.org/wiki/Q14620","display_name":"Optics","level":1,"score":0.0},{"id":"https://openalex.org/C121332964","wikidata":"https://www.wikidata.org/wiki/Q413","display_name":"Physics","level":0,"score":0.0}],"mesh":[{"descriptor_ui":"D000293","descriptor_name":"Adolescent","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002779","descriptor_name":"Cholestasis","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002972","descriptor_name":"Cleft Palate","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005451","descriptor_name":"Fluorescein Angiography","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D005654","descriptor_name":"Fundus Oculi","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D012174","descriptor_name":"Retinitis Pigmentosa","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":true},{"descriptor_ui":"D041623","descriptor_name":"Tomography, Optical Coherence","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D055213","descriptor_name":"Retinal Pigment Epithelium","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":true},{"descriptor_ui":"D064847","descriptor_name":"Multimodal Imaging","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":true}],"locations_count":2,"locations":[{"id":"doi:10.1097/icb.0000000000001476","doi":"https://doi.org/10.1097/icb.0000000000001476","is_oa":false,"landing_page_url":"https://doi.org/10.1097/icb.0000000000001476","pdf_url":null,"source":{"id":"https://openalex.org/S15540642","display_name":"Retinal Cases & Brief Reports","issn_l":"1935-1089","issn":["1935-1089","1937-1578"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","jufo-1","medline","poland-40","russia-white-list-2"],"host_organization":"https://openalex.org/P4310315671","host_organization_name":"Lippincott Williams & Wilkins","host_organization_lineage":["https://openalex.org/P4310315671","https://openalex.org/P4310318547"],"host_organization_lineage_names":["Lippincott Williams & Wilkins","Wolters Kluwer"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"RETINAL Cases &amp; Brief Reports","raw_type":"journal-article"},{"id":"pmid:37603453","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/37603453","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":"Retinal cases & brief reports","raw_type":"Journal Article"}],"best_oa_location":null,"sustainable_development_goals":[{"display_name":"Good health and well-being","id":"https://metadata.un.org/sdg/3","score":0.9763000011444092}],"study_designs":[{"display_name":"Case Report","id":"https://openalex.org/study-designs/case-report"}],"awards":[],"funders":[],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":9,"referenced_works":["https://openalex.org/W1984996310","https://openalex.org/W1993945110","https://openalex.org/W1995252923","https://openalex.org/W2008660108","https://openalex.org/W2057722577","https://openalex.org/W3108867080","https://openalex.org/W4205754721","https://openalex.org/W4224023313","https://openalex.org/W4226003025"],"related_works":["https://openalex.org/W4205490724","https://openalex.org/W4200094298","https://openalex.org/W4390547752","https://openalex.org/W7160095855","https://openalex.org/W4200067336","https://openalex.org/W7116671974","https://openalex.org/W4399384136","https://openalex.org/W7133324943","https://openalex.org/W4200238703","https://openalex.org/W7216682277"],"abstract_inverted_index":{"PURPOSE:":[0],"To":[1],"describe":[2],"the":[3,85,101,120,137,146,151,173,204],"syndromic,":[4],"clinical,":[5],"and":[6,32,42,48,87,114,162,215],"retinal":[7,75,80,139,186,222],"findings":[8,122,157],"of":[9,24,73,123,126,136,193,203,206],"a":[10,169],"patient":[11,56],"with":[12,22,46,57,79,106,119,145,160,165,185,220],"an":[13,93,133],"extremely-rare":[14],"genetic":[15,163],"condition":[16],"known":[17],"as":[18],"Hardikar":[19,181],"syndrome":[20,182],"(HS)":[21],"presentation":[23],"optical":[25,107],"coherence":[26,108],"tomography,":[27,109],"fundus":[28,110],"autofluorescence,":[29,111],"fluorescein":[30,112],"angiographic,":[31],"indocyanine":[33,115],"green":[34,116],"angiographic":[35],"findings.":[36],"METHODS:":[37],"Clinical":[38],"course":[39],"was":[40,59,98,148],"detailed":[41],"followed":[43],"over":[44],"time":[45],"examinations":[47],"multimodal":[49,221],"imaging.":[50,223],"PATIENT":[51],"AND":[52,179],"RESULTS:":[53],"A":[54],"17-year-old":[55],"HS":[58,218],"referred":[60],"for":[61,217],"possible":[62],"retinitis":[63],"pigmentosa.":[64],"Dilated":[65],"fundoscopic":[66],"examination":[67],"revealed":[68,168],"large,":[69],"multifocal":[70],"cauliform":[71],"patches":[72,125,192],"chorioretinal":[74,127,195],"pigment":[76,81,187],"epithelium":[77,82,188],"changes":[78],"drop-out":[83],"involving":[84],"macula":[86],"periphery":[88],"in":[89,100,129,143,150,172],"both":[90,130],"eyes.":[91,131],"Additionally,":[92,132],"inactive":[94],"choroidal":[95,147,207],"neovascular":[96,208],"membrane":[97],"present":[99,149],"left":[102,152],"eye.":[103,153],"Multimodal":[104],"imaging":[105],"angiography,":[113],"angiography":[117],"correlated":[118],"clinical":[121,156],"focal":[124,191],"degeneration":[128],"anomalous":[134],"finding":[135],"superior":[138],"arterial":[140],"vessels":[141],"filling":[142],"tandem":[144],"The":[154,210],"patient's":[155],"were":[158],"consistent":[159],"HS,":[161],"testing":[164],"whole-exome":[166],"sequencing":[167],"pathogenic":[170],"mutation":[171],"MED12":[174],"gene,":[175],"confirming":[176],"diagnosis.":[177],"DISCUSSION":[178],"CONCLUSIONS:":[180],"is":[183],"associated":[184],"degeneration,":[189],"creating":[190],"pigmentary":[194],"atrophic":[196],"lesions.":[197],"Vision":[198],"loss":[199],"can":[200],"occur":[201],"because":[202],"development":[205],"membranes.":[209],"authors":[211],"recommend":[212],"close":[213],"evaluation":[214],"follow-up":[216],"patients":[219]},"counts_by_year":[{"year":2026,"cited_by_count":1},{"year":2025,"cited_by_count":1}],"updated_date":"2026-11-06T12:05:46.655746","created_date":"2023-08-22T00:00:00"}
