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Prospective deep phenotyping of choroideremia patients using multimodal structure-function approaches
Objective To investigate the retinal changes in choroideremia (CHM) patients to determine correlations between age, structure and function. Subjects/Methods Twenty-six eyes from 13 male CHM patients were included in this prospective longitudinal study. Participants were divided into
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| Published in: | Eye (London) 2021-03, Vol.35 (3), p.838-852 |
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| creator | Hagag, Ahmed M. Mitsios, Andreas Narayan, Akshay Abbouda, Alessandro Webster, Andrew R. Dubis, Adam M. Moosajee, Mariya |
| description | Objective
To investigate the retinal changes in choroideremia (CHM) patients to determine correlations between age, structure and function.
Subjects/Methods
Twenty-six eyes from 13 male CHM patients were included in this prospective longitudinal study. Participants were divided into |
| doi_str_mv | 10.1038/s41433-020-0974-1 |
| format | article |
| fullrecord | <record><control><sourceid>proquest_pubme</sourceid><recordid>TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_8027673</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><sourcerecordid>2408195010</sourcerecordid><originalsourceid>FETCH-LOGICAL-c536t-f4d589cfad8f5d7627d98dc56ef81c7b79d5d148c79ee65a9d9c059fd146aa443</originalsourceid><addsrcrecordid>eNp1UU1rHSEUldLSvL72B3RTBrrpxlYdHXVTKCH9gEC7SKA7MXrnPcOMTnUM5N_Hx0vTD8hKuOfc47nnIPSakveU9OpD4ZT3PSaMYKIlx_QJ2lAuByy44E_RhmhBMGPs5wl6Uco1IQ2U5Dk66Rkf5MDUBsGPnMoCbg030HmApVv2ENN6u4S469LYuX3KKXjIMAfbLXYNENfS1XLA5zqtYU7eTl1Zc3VrzYDHGptcip1dlpys20N5iZ6Ndirw6v7dosvPZxenX_H59y_fTj-dYyf6YcUj90JpN1qvRuGbQem18k4MMCrq5JXUXnjKlZMaYBBWe-2I0GObDdZy3m_Rx6PuUq9m8K5ZzXYySw6zzbcm2WD-RWLYm126MYowOci-Cby7F8jpV4WymjkUB9NkI6RaDONE0ZZqi3-L3v5HvU41x3ZeY2kmlaRNcYvokeVaziXD-GCGEnMo0RxLNK1EcyjR0Lbz5u8rHjZ-t9YI7EgoDYo7yH--flz1DgaMq5U</addsrcrecordid><sourcetype>Open Access Repository</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype><pqid>2492787167</pqid></control><display><type>article</type><title>Prospective deep phenotyping of choroideremia patients using multimodal structure-function approaches</title><source>PubMed Central Free</source><source>Springer Nature</source><creator>Hagag, Ahmed M. ; Mitsios, Andreas ; Narayan, Akshay ; Abbouda, Alessandro ; Webster, Andrew R. ; Dubis, Adam M. ; Moosajee, Mariya</creator><creatorcontrib>Hagag, Ahmed M. ; Mitsios, Andreas ; Narayan, Akshay ; Abbouda, Alessandro ; Webster, Andrew R. ; Dubis, Adam M. ; Moosajee, Mariya</creatorcontrib><description>Objective
To investigate the retinal changes in choroideremia (CHM) patients to determine correlations between age, structure and function.
Subjects/Methods
Twenty-six eyes from 13 male CHM patients were included in this prospective longitudinal study. Participants were divided into <50-year (
n
= 8) and ≥50-year (
n
= 5) old groups. Patients were seen at baseline, 6-month, and 1-year visits. Optical coherence tomography (OCT), OCT angiography, and fundus autofluorescence were performed to measure central foveal (CFT) and subfoveal choroidal thickness (SCT), as well as areas of preserved choriocapillaris (CC), ellipsoid zone (EZ), and autofluorescence (PAF). Patients also underwent functional investigations including visual acuity (VA), contrast sensitivity (CS), colour testing, microperimetry, dark adaptometry, and handheld electroretinogram (ERG). Vision-related quality-of-life was assessed by using the NEI-VFQ-25 questionnaire.
Results
Over the 1-year follow-up period, progressive loss was detected in SCT, EZ, CC, PAF, and CFT. Those ≥50-years exhibited more structural and functional defects with SCT, EZ, CC, and PAF showing strong correlation with patient age (
rho
≤ −0.47,
p
≤ 0.02). CS and VA did not change over the year, but CS was significantly correlated with age (
rho
= −0.63,
p
= 0.001). Delayed to unmeasurable dark adaptation, decreased colour discrimination and no detectable ERG activity were observed in all patients. Minimal functional deterioration was observed over one year with a general trend of slower progression in the ≥50-years group.
Conclusions
Quantitative structural parameters including SCT, CC, EZ, and PAF are most useful for disease monitoring in CHM. Extended follow-up studies are required to determine longitudinal functional changes.</description><identifier>ISSN: 0950-222X</identifier><identifier>EISSN: 1476-5454</identifier><identifier>DOI: 10.1038/s41433-020-0974-1</identifier><identifier>PMID: 32467628</identifier><language>eng</language><publisher>London: Nature Publishing Group UK</publisher><subject>59 ; 692/308/53/2422 ; 692/699/3161/3165 ; Acuity ; Age ; Age composition ; Angiography ; Choroid ; Choroideremia ; Clinical trials ; Electroretinograms ; Fluorescein Angiography ; Humans ; Laboratory Medicine ; Longitudinal Studies ; Male ; Medical imaging ; Medicine ; Medicine & Public Health ; Mutation ; Ophthalmology ; Patients ; Pharmaceutical Sciences/Technology ; Phenotyping ; Photoreceptors ; Prospective Studies ; Sensitivity analysis ; Structure-function relationships ; Surgery ; Surgical Oncology ; Tomography, Optical Coherence ; Visual discrimination</subject><ispartof>Eye (London), 2021-03, Vol.35 (3), p.838-852</ispartof><rights>The Author(s) 2020</rights><rights>The Author(s) 2020. This work is published under http://creativecommons.org/licenses/by/4.0/ (the “License”). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License.</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c536t-f4d589cfad8f5d7627d98dc56ef81c7b79d5d148c79ee65a9d9c059fd146aa443</citedby><cites>FETCH-LOGICAL-c536t-f4d589cfad8f5d7627d98dc56ef81c7b79d5d148c79ee65a9d9c059fd146aa443</cites><orcidid>0000-0001-8582-4823 ; 0000-0002-3372-7885 ; 0000-0003-1688-5360</orcidid></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC8027673/pdf/$$EPDF$$P50$$Gpubmedcentral$$Hfree_for_read</linktopdf><linktohtml>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC8027673/$$EHTML$$P50$$Gpubmedcentral$$Hfree_for_read</linktohtml><link.rule.ids>230,314,727,780,784,885,27924,27925,53791,53793</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/32467628$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Hagag, Ahmed M.</creatorcontrib><creatorcontrib>Mitsios, Andreas</creatorcontrib><creatorcontrib>Narayan, Akshay</creatorcontrib><creatorcontrib>Abbouda, Alessandro</creatorcontrib><creatorcontrib>Webster, Andrew R.</creatorcontrib><creatorcontrib>Dubis, Adam M.</creatorcontrib><creatorcontrib>Moosajee, Mariya</creatorcontrib><title>Prospective deep phenotyping of choroideremia patients using multimodal structure-function approaches</title><title>Eye (London)</title><addtitle>Eye</addtitle><addtitle>Eye (Lond)</addtitle><description>Objective
To investigate the retinal changes in choroideremia (CHM) patients to determine correlations between age, structure and function.
Subjects/Methods
Twenty-six eyes from 13 male CHM patients were included in this prospective longitudinal study. Participants were divided into <50-year (
n
= 8) and ≥50-year (
n
= 5) old groups. Patients were seen at baseline, 6-month, and 1-year visits. Optical coherence tomography (OCT), OCT angiography, and fundus autofluorescence were performed to measure central foveal (CFT) and subfoveal choroidal thickness (SCT), as well as areas of preserved choriocapillaris (CC), ellipsoid zone (EZ), and autofluorescence (PAF). Patients also underwent functional investigations including visual acuity (VA), contrast sensitivity (CS), colour testing, microperimetry, dark adaptometry, and handheld electroretinogram (ERG). Vision-related quality-of-life was assessed by using the NEI-VFQ-25 questionnaire.
Results
Over the 1-year follow-up period, progressive loss was detected in SCT, EZ, CC, PAF, and CFT. Those ≥50-years exhibited more structural and functional defects with SCT, EZ, CC, and PAF showing strong correlation with patient age (
rho
≤ −0.47,
p
≤ 0.02). CS and VA did not change over the year, but CS was significantly correlated with age (
rho
= −0.63,
p
= 0.001). Delayed to unmeasurable dark adaptation, decreased colour discrimination and no detectable ERG activity were observed in all patients. Minimal functional deterioration was observed over one year with a general trend of slower progression in the ≥50-years group.
Conclusions
Quantitative structural parameters including SCT, CC, EZ, and PAF are most useful for disease monitoring in CHM. Extended follow-up studies are required to determine longitudinal functional changes.</description><subject>59</subject><subject>692/308/53/2422</subject><subject>692/699/3161/3165</subject><subject>Acuity</subject><subject>Age</subject><subject>Age composition</subject><subject>Angiography</subject><subject>Choroid</subject><subject>Choroideremia</subject><subject>Clinical trials</subject><subject>Electroretinograms</subject><subject>Fluorescein Angiography</subject><subject>Humans</subject><subject>Laboratory Medicine</subject><subject>Longitudinal Studies</subject><subject>Male</subject><subject>Medical imaging</subject><subject>Medicine</subject><subject>Medicine & Public Health</subject><subject>Mutation</subject><subject>Ophthalmology</subject><subject>Patients</subject><subject>Pharmaceutical Sciences/Technology</subject><subject>Phenotyping</subject><subject>Photoreceptors</subject><subject>Prospective Studies</subject><subject>Sensitivity analysis</subject><subject>Structure-function relationships</subject><subject>Surgery</subject><subject>Surgical Oncology</subject><subject>Tomography, Optical Coherence</subject><subject>Visual discrimination</subject><issn>0950-222X</issn><issn>1476-5454</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2021</creationdate><recordtype>article</recordtype><recordid>eNp1UU1rHSEUldLSvL72B3RTBrrpxlYdHXVTKCH9gEC7SKA7MXrnPcOMTnUM5N_Hx0vTD8hKuOfc47nnIPSakveU9OpD4ZT3PSaMYKIlx_QJ2lAuByy44E_RhmhBMGPs5wl6Uco1IQ2U5Dk66Rkf5MDUBsGPnMoCbg030HmApVv2ENN6u4S469LYuX3KKXjIMAfbLXYNENfS1XLA5zqtYU7eTl1Zc3VrzYDHGptcip1dlpys20N5iZ6Ndirw6v7dosvPZxenX_H59y_fTj-dYyf6YcUj90JpN1qvRuGbQem18k4MMCrq5JXUXnjKlZMaYBBWe-2I0GObDdZy3m_Rx6PuUq9m8K5ZzXYySw6zzbcm2WD-RWLYm126MYowOci-Cby7F8jpV4WymjkUB9NkI6RaDONE0ZZqi3-L3v5HvU41x3ZeY2kmlaRNcYvokeVaziXD-GCGEnMo0RxLNK1EcyjR0Lbz5u8rHjZ-t9YI7EgoDYo7yH--flz1DgaMq5U</recordid><startdate>20210301</startdate><enddate>20210301</enddate><creator>Hagag, Ahmed M.</creator><creator>Mitsios, Andreas</creator><creator>Narayan, Akshay</creator><creator>Abbouda, Alessandro</creator><creator>Webster, Andrew R.</creator><creator>Dubis, Adam M.</creator><creator>Moosajee, Mariya</creator><general>Nature Publishing Group UK</general><general>Nature Publishing Group</general><scope>C6C</scope><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>3V.</scope><scope>7TK</scope><scope>7X7</scope><scope>7XB</scope><scope>88E</scope><scope>8AO</scope><scope>8FE</scope><scope>8FH</scope><scope>8FI</scope><scope>8FJ</scope><scope>8FK</scope><scope>ABUWG</scope><scope>AFKRA</scope><scope>AZQEC</scope><scope>BBNVY</scope><scope>BENPR</scope><scope>BHPHI</scope><scope>CCPQU</scope><scope>DWQXO</scope><scope>FYUFA</scope><scope>GHDGH</scope><scope>GNUQQ</scope><scope>HCIFZ</scope><scope>K9.</scope><scope>LK8</scope><scope>M0S</scope><scope>M1P</scope><scope>M7P</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>7X8</scope><scope>5PM</scope><orcidid>https://orcid.org/0000-0001-8582-4823</orcidid><orcidid>https://orcid.org/0000-0002-3372-7885</orcidid><orcidid>https://orcid.org/0000-0003-1688-5360</orcidid></search><sort><creationdate>20210301</creationdate><title>Prospective deep phenotyping of choroideremia patients using multimodal structure-function approaches</title><author>Hagag, Ahmed M. ; Mitsios, Andreas ; Narayan, Akshay ; Abbouda, Alessandro ; Webster, Andrew R. ; Dubis, Adam M. ; Moosajee, Mariya</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c536t-f4d589cfad8f5d7627d98dc56ef81c7b79d5d148c79ee65a9d9c059fd146aa443</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2021</creationdate><topic>59</topic><topic>692/308/53/2422</topic><topic>692/699/3161/3165</topic><topic>Acuity</topic><topic>Age</topic><topic>Age composition</topic><topic>Angiography</topic><topic>Choroid</topic><topic>Choroideremia</topic><topic>Clinical trials</topic><topic>Electroretinograms</topic><topic>Fluorescein Angiography</topic><topic>Humans</topic><topic>Laboratory Medicine</topic><topic>Longitudinal Studies</topic><topic>Male</topic><topic>Medical imaging</topic><topic>Medicine</topic><topic>Medicine & Public Health</topic><topic>Mutation</topic><topic>Ophthalmology</topic><topic>Patients</topic><topic>Pharmaceutical Sciences/Technology</topic><topic>Phenotyping</topic><topic>Photoreceptors</topic><topic>Prospective Studies</topic><topic>Sensitivity analysis</topic><topic>Structure-function relationships</topic><topic>Surgery</topic><topic>Surgical Oncology</topic><topic>Tomography, Optical Coherence</topic><topic>Visual discrimination</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Hagag, Ahmed M.</creatorcontrib><creatorcontrib>Mitsios, Andreas</creatorcontrib><creatorcontrib>Narayan, Akshay</creatorcontrib><creatorcontrib>Abbouda, Alessandro</creatorcontrib><creatorcontrib>Webster, Andrew R.</creatorcontrib><creatorcontrib>Dubis, Adam M.</creatorcontrib><creatorcontrib>Moosajee, Mariya</creatorcontrib><collection>Springer Nature OA Free Journals</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>ProQuest Central (Corporate)</collection><collection>Neurosciences Abstracts</collection><collection>Health & Medical Collection</collection><collection>ProQuest Central (purchase pre-March 2016)</collection><collection>Medical Database (Alumni Edition)</collection><collection>ProQuest Pharma Collection</collection><collection>ProQuest SciTech Collection</collection><collection>ProQuest Natural Science Collection</collection><collection>Hospital Premium Collection</collection><collection>Hospital Premium Collection (Alumni Edition)</collection><collection>ProQuest Central (Alumni) (purchase pre-March 2016)</collection><collection>ProQuest Central (Alumni)</collection><collection>ProQuest Central</collection><collection>ProQuest Central Essentials</collection><collection>Biological Science Collection</collection><collection>AUTh Library subscriptions: ProQuest Central</collection><collection>Natural Science Collection</collection><collection>ProQuest One Community College</collection><collection>ProQuest Central</collection><collection>Health Research Premium Collection</collection><collection>Health Research Premium Collection (Alumni)</collection><collection>ProQuest Central Student</collection><collection>SciTech Premium Collection</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>ProQuest Biological Science Collection</collection><collection>Health & Medical Collection (Alumni Edition)</collection><collection>PML(ProQuest Medical Library)</collection><collection>Biological Science Database</collection><collection>ProQuest One Academic Eastern Edition (DO NOT USE)</collection><collection>ProQuest One Academic</collection><collection>ProQuest One Academic UKI Edition</collection><collection>MEDLINE - Academic</collection><collection>PubMed Central (Full Participant titles)</collection><jtitle>Eye (London)</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Hagag, Ahmed M.</au><au>Mitsios, Andreas</au><au>Narayan, Akshay</au><au>Abbouda, Alessandro</au><au>Webster, Andrew R.</au><au>Dubis, Adam M.</au><au>Moosajee, Mariya</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Prospective deep phenotyping of choroideremia patients using multimodal structure-function approaches</atitle><jtitle>Eye (London)</jtitle><stitle>Eye</stitle><addtitle>Eye (Lond)</addtitle><date>2021-03-01</date><risdate>2021</risdate><volume>35</volume><issue>3</issue><spage>838</spage><epage>852</epage><pages>838-852</pages><issn>0950-222X</issn><eissn>1476-5454</eissn><abstract>Objective
To investigate the retinal changes in choroideremia (CHM) patients to determine correlations between age, structure and function.
Subjects/Methods
Twenty-six eyes from 13 male CHM patients were included in this prospective longitudinal study. Participants were divided into <50-year (
n
= 8) and ≥50-year (
n
= 5) old groups. Patients were seen at baseline, 6-month, and 1-year visits. Optical coherence tomography (OCT), OCT angiography, and fundus autofluorescence were performed to measure central foveal (CFT) and subfoveal choroidal thickness (SCT), as well as areas of preserved choriocapillaris (CC), ellipsoid zone (EZ), and autofluorescence (PAF). Patients also underwent functional investigations including visual acuity (VA), contrast sensitivity (CS), colour testing, microperimetry, dark adaptometry, and handheld electroretinogram (ERG). Vision-related quality-of-life was assessed by using the NEI-VFQ-25 questionnaire.
Results
Over the 1-year follow-up period, progressive loss was detected in SCT, EZ, CC, PAF, and CFT. Those ≥50-years exhibited more structural and functional defects with SCT, EZ, CC, and PAF showing strong correlation with patient age (
rho
≤ −0.47,
p
≤ 0.02). CS and VA did not change over the year, but CS was significantly correlated with age (
rho
= −0.63,
p
= 0.001). Delayed to unmeasurable dark adaptation, decreased colour discrimination and no detectable ERG activity were observed in all patients. Minimal functional deterioration was observed over one year with a general trend of slower progression in the ≥50-years group.
Conclusions
Quantitative structural parameters including SCT, CC, EZ, and PAF are most useful for disease monitoring in CHM. Extended follow-up studies are required to determine longitudinal functional changes.</abstract><cop>London</cop><pub>Nature Publishing Group UK</pub><pmid>32467628</pmid><doi>10.1038/s41433-020-0974-1</doi><tpages>15</tpages><orcidid>https://orcid.org/0000-0001-8582-4823</orcidid><orcidid>https://orcid.org/0000-0002-3372-7885</orcidid><orcidid>https://orcid.org/0000-0003-1688-5360</orcidid><oa>free_for_read</oa></addata></record> |
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| ispartof | Eye (London), 2021-03, Vol.35 (3), p.838-852 |
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| language | eng |
| recordid | cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_8027673 |
| source | PubMed Central Free; Springer Nature |
| subjects | 59 692/308/53/2422 692/699/3161/3165 Acuity Age Age composition Angiography Choroid Choroideremia Clinical trials Electroretinograms Fluorescein Angiography Humans Laboratory Medicine Longitudinal Studies Male Medical imaging Medicine Medicine & Public Health Mutation Ophthalmology Patients Pharmaceutical Sciences/Technology Phenotyping Photoreceptors Prospective Studies Sensitivity analysis Structure-function relationships Surgery Surgical Oncology Tomography, Optical Coherence Visual discrimination |
| title | Prospective deep phenotyping of choroideremia patients using multimodal structure-function approaches |
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