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Characteristics of Rare Inherited Retinal Dystrophies in Adaptive Optics-A Study on 53 Eyes
Inherited retinal dystrophies (IRDs) are genetic disorders that lead to the bilateral degeneration of the retina, causing irreversible vision loss. These conditions often manifest during the first and second decades of life, and their primary symptoms can be non-specific. Diagnostic processes encomp...
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Published in: | Diagnostics (Basel) 2023-07, Vol.13 (15), p.2472 |
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description | Inherited retinal dystrophies (IRDs) are genetic disorders that lead to the bilateral degeneration of the retina, causing irreversible vision loss. These conditions often manifest during the first and second decades of life, and their primary symptoms can be non-specific. Diagnostic processes encompass assessments of best-corrected visual acuity, fundoscopy, optical coherence tomography, fundus autofluorescence, fluorescein angiography, electrophysiological tests, and genetic testing. This study focuses on the application of adaptive optics (AO), a non-invasive retinal examination, for the assessment of patients with IRDs. AO facilitates the high-quality, detailed observation of retinal photoreceptor structures (cones and rods) and enables the quantitative analysis of parameters such as cone density (DM), cone spacing (SM), cone regularity (REG), and Voronoi analysis (N%6). AO examinations were conducted on eyes diagnosed with Stargardt disease (STGD, N=36), cone dystrophy (CD, N=9), and cone-rod dystrophy (CRD, N=8), and on healthy eyes (N=14). There were significant differences in the DM, SM, REG, and N%6 parameters between the healthy and IRD-affected eyes (p |
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These conditions often manifest during the first and second decades of life, and their primary symptoms can be non-specific. Diagnostic processes encompass assessments of best-corrected visual acuity, fundoscopy, optical coherence tomography, fundus autofluorescence, fluorescein angiography, electrophysiological tests, and genetic testing. This study focuses on the application of adaptive optics (AO), a non-invasive retinal examination, for the assessment of patients with IRDs. AO facilitates the high-quality, detailed observation of retinal photoreceptor structures (cones and rods) and enables the quantitative analysis of parameters such as cone density (DM), cone spacing (SM), cone regularity (REG), and Voronoi analysis (N%6). AO examinations were conducted on eyes diagnosed with Stargardt disease (STGD, N=36), cone dystrophy (CD, N=9), and cone-rod dystrophy (CRD, N=8), and on healthy eyes (N=14). There were significant differences in the DM, SM, REG, and N%6 parameters between the healthy and IRD-affected eyes (p<0.001 for DM, SM, and REG; p=0.008 for N%6). The mean DM in the CD, CRD, and STGD groups was 8900.39/mm2, 9296.32/mm2, and 16,209.66/mm2, respectively, with a significant inter-group difference (p=0.006). The mean SM in the CD, CRD, and STGD groups was 12.37 μm, 14.82 μm, and 9.65 μm, respectively, with a significant difference observed between groups (p=0.002). However, no significant difference was found in REG and N%6 among the CD, CRD, and STGD groups. Significant differences were found in SM and DM between CD and STGD (p=0.014 for SM; p=0.003 for DM) and between CRD and STGD (p=0.027 for SM; p=0.003 for DM). Our findings suggest that AO holds significant potential as an impactful diagnostic tool for IRDs.</description><identifier>ISSN: 2075-4418</identifier><identifier>EISSN: 2075-4418</identifier><identifier>DOI: 10.3390/diagnostics13152472</identifier><identifier>PMID: 37568834</identifier><language>eng</language><publisher>Switzerland: MDPI AG</publisher><subject>adaptive optics ; Atrophy ; cone dystrophy ; cone-rod dystrophy ; Disease ; Genes ; inherited retinal diseases ; inherited retinal dystrophies ; Morphology ; Mutation ; Photoreceptors ; Retina</subject><ispartof>Diagnostics (Basel), 2023-07, Vol.13 (15), p.2472</ispartof><rights>COPYRIGHT 2023 MDPI AG</rights><rights>2023 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License.</rights><rights>2023 by the authors. 2023</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c567t-8f85fa1a70fdd6e14d4561e16d22d2d423e20eb403064eaf939058d9205e14603</citedby><cites>FETCH-LOGICAL-c567t-8f85fa1a70fdd6e14d4561e16d22d2d423e20eb403064eaf939058d9205e14603</cites><orcidid>0009-0006-0354-3993 ; 0000-0002-6946-970X ; 0000-0001-9100-0847 ; 0000-0003-1747-0183 ; 0000-0003-0366-1448</orcidid></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://www.proquest.com/docview/2848985565/fulltextPDF?pq-origsite=primo$$EPDF$$P50$$Gproquest$$Hfree_for_read</linktopdf><linktohtml>$$Uhttps://www.proquest.com/docview/2848985565?pq-origsite=primo$$EHTML$$P50$$Gproquest$$Hfree_for_read</linktohtml><link.rule.ids>230,314,727,780,784,885,25753,27924,27925,37012,37013,44590,53791,53793,75126</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/37568834$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Samelska, Katarzyna</creatorcontrib><creatorcontrib>Szaflik, Jacek Paweł</creatorcontrib><creatorcontrib>Guszkowska, Maria</creatorcontrib><creatorcontrib>Kurowska, Anna Katarzyna</creatorcontrib><creatorcontrib>Zaleska-Żmijewska, Anna</creatorcontrib><title>Characteristics of Rare Inherited Retinal Dystrophies in Adaptive Optics-A Study on 53 Eyes</title><title>Diagnostics (Basel)</title><addtitle>Diagnostics (Basel)</addtitle><description>Inherited retinal dystrophies (IRDs) are genetic disorders that lead to the bilateral degeneration of the retina, causing irreversible vision loss. These conditions often manifest during the first and second decades of life, and their primary symptoms can be non-specific. Diagnostic processes encompass assessments of best-corrected visual acuity, fundoscopy, optical coherence tomography, fundus autofluorescence, fluorescein angiography, electrophysiological tests, and genetic testing. This study focuses on the application of adaptive optics (AO), a non-invasive retinal examination, for the assessment of patients with IRDs. AO facilitates the high-quality, detailed observation of retinal photoreceptor structures (cones and rods) and enables the quantitative analysis of parameters such as cone density (DM), cone spacing (SM), cone regularity (REG), and Voronoi analysis (N%6). AO examinations were conducted on eyes diagnosed with Stargardt disease (STGD, N=36), cone dystrophy (CD, N=9), and cone-rod dystrophy (CRD, N=8), and on healthy eyes (N=14). There were significant differences in the DM, SM, REG, and N%6 parameters between the healthy and IRD-affected eyes (p<0.001 for DM, SM, and REG; p=0.008 for N%6). The mean DM in the CD, CRD, and STGD groups was 8900.39/mm2, 9296.32/mm2, and 16,209.66/mm2, respectively, with a significant inter-group difference (p=0.006). The mean SM in the CD, CRD, and STGD groups was 12.37 μm, 14.82 μm, and 9.65 μm, respectively, with a significant difference observed between groups (p=0.002). However, no significant difference was found in REG and N%6 among the CD, CRD, and STGD groups. Significant differences were found in SM and DM between CD and STGD (p=0.014 for SM; p=0.003 for DM) and between CRD and STGD (p=0.027 for SM; p=0.003 for DM). Our findings suggest that AO holds significant potential as an impactful diagnostic tool for IRDs.</description><subject>adaptive optics</subject><subject>Atrophy</subject><subject>cone dystrophy</subject><subject>cone-rod dystrophy</subject><subject>Disease</subject><subject>Genes</subject><subject>inherited retinal diseases</subject><subject>inherited retinal dystrophies</subject><subject>Morphology</subject><subject>Mutation</subject><subject>Photoreceptors</subject><subject>Retina</subject><issn>2075-4418</issn><issn>2075-4418</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2023</creationdate><recordtype>article</recordtype><sourceid>PIMPY</sourceid><sourceid>DOA</sourceid><recordid>eNptkk1rGzEQhpfS0gQ3v6BQBL30som-V3sqxk1bQyCQtqcehHY1a8usV66kDfjfV2unSVwiHTSM3veRZpiieE_wJWM1vrLOrAYfk2sjYURQXtFXxTnFlSg5J-r1s_isuIhxg_OqCVNUvC3OWCWkUoyfF78XaxNMmyC4Awz5Dt2ZAGg5rHMugUV3kNxgevRlH1Pwu7WDiNyA5tbskrsHdLubjOUc_Uij3SM_IMHQ9R7iu-JNZ_oIFw_nrPj19frn4nt5c_ttuZjflK2QVSpVp0RniKlwZ60Ewi0XkgCRllJLLacMKIaGY4YlB9PVuX6hbE2xyGKJ2axYHrnWm43eBbc1Ya-9cfqQ8GGlTch_7EFTSRS2hhKoKl5h1pDKyM5I3DTAJIjM-nxk7cZmC7aFIQXTn0BPbwa31it_rwnm5ICcFZ8eCMH_GSEmvXWxhb43A_gxaqoEZkRJUmfpx_-kGz-G3OtJxVWthJDiSbUyuQI3dD4_3E5QPa8kFoRzPqkuX1DlbWHrWj9A53L-xMCOhjb4GAN0j0USrKcZ0y_MWHZ9eN6fR8-_iWJ_AY9_zNo</recordid><startdate>20230725</startdate><enddate>20230725</enddate><creator>Samelska, Katarzyna</creator><creator>Szaflik, Jacek Paweł</creator><creator>Guszkowska, Maria</creator><creator>Kurowska, Anna Katarzyna</creator><creator>Zaleska-Żmijewska, Anna</creator><general>MDPI AG</general><general>MDPI</general><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>3V.</scope><scope>7XB</scope><scope>8FK</scope><scope>8G5</scope><scope>ABUWG</scope><scope>AFKRA</scope><scope>AZQEC</scope><scope>BENPR</scope><scope>CCPQU</scope><scope>DWQXO</scope><scope>GNUQQ</scope><scope>GUQSH</scope><scope>M2O</scope><scope>MBDVC</scope><scope>PIMPY</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>Q9U</scope><scope>7X8</scope><scope>5PM</scope><scope>DOA</scope><orcidid>https://orcid.org/0009-0006-0354-3993</orcidid><orcidid>https://orcid.org/0000-0002-6946-970X</orcidid><orcidid>https://orcid.org/0000-0001-9100-0847</orcidid><orcidid>https://orcid.org/0000-0003-1747-0183</orcidid><orcidid>https://orcid.org/0000-0003-0366-1448</orcidid></search><sort><creationdate>20230725</creationdate><title>Characteristics of Rare Inherited Retinal Dystrophies in Adaptive Optics-A Study on 53 Eyes</title><author>Samelska, Katarzyna ; Szaflik, Jacek Paweł ; Guszkowska, Maria ; Kurowska, Anna Katarzyna ; Zaleska-Żmijewska, Anna</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c567t-8f85fa1a70fdd6e14d4561e16d22d2d423e20eb403064eaf939058d9205e14603</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2023</creationdate><topic>adaptive optics</topic><topic>Atrophy</topic><topic>cone dystrophy</topic><topic>cone-rod dystrophy</topic><topic>Disease</topic><topic>Genes</topic><topic>inherited retinal diseases</topic><topic>inherited retinal dystrophies</topic><topic>Morphology</topic><topic>Mutation</topic><topic>Photoreceptors</topic><topic>Retina</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Samelska, Katarzyna</creatorcontrib><creatorcontrib>Szaflik, Jacek Paweł</creatorcontrib><creatorcontrib>Guszkowska, Maria</creatorcontrib><creatorcontrib>Kurowska, Anna Katarzyna</creatorcontrib><creatorcontrib>Zaleska-Żmijewska, Anna</creatorcontrib><collection>PubMed</collection><collection>CrossRef</collection><collection>ProQuest Central (Corporate)</collection><collection>ProQuest Central (purchase pre-March 2016)</collection><collection>ProQuest Central (Alumni) (purchase pre-March 2016)</collection><collection>Research Library (Alumni Edition)</collection><collection>ProQuest Central (Alumni)</collection><collection>ProQuest Central</collection><collection>ProQuest Central Essentials</collection><collection>ProQuest Central</collection><collection>ProQuest One Community College</collection><collection>ProQuest Central Korea</collection><collection>ProQuest Central Student</collection><collection>Research Library Prep</collection><collection>Research Library</collection><collection>Research Library (Corporate)</collection><collection>Publicly Available Content 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>ProQuest Central Basic</collection><collection>MEDLINE - Academic</collection><collection>PubMed Central (Full Participant titles)</collection><collection>Directory of Open Access Journals</collection><jtitle>Diagnostics (Basel)</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Samelska, Katarzyna</au><au>Szaflik, Jacek Paweł</au><au>Guszkowska, Maria</au><au>Kurowska, Anna Katarzyna</au><au>Zaleska-Żmijewska, Anna</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Characteristics of Rare Inherited Retinal Dystrophies in Adaptive Optics-A Study on 53 Eyes</atitle><jtitle>Diagnostics (Basel)</jtitle><addtitle>Diagnostics (Basel)</addtitle><date>2023-07-25</date><risdate>2023</risdate><volume>13</volume><issue>15</issue><spage>2472</spage><pages>2472-</pages><issn>2075-4418</issn><eissn>2075-4418</eissn><abstract>Inherited retinal dystrophies (IRDs) are genetic disorders that lead to the bilateral degeneration of the retina, causing irreversible vision loss. These conditions often manifest during the first and second decades of life, and their primary symptoms can be non-specific. Diagnostic processes encompass assessments of best-corrected visual acuity, fundoscopy, optical coherence tomography, fundus autofluorescence, fluorescein angiography, electrophysiological tests, and genetic testing. This study focuses on the application of adaptive optics (AO), a non-invasive retinal examination, for the assessment of patients with IRDs. AO facilitates the high-quality, detailed observation of retinal photoreceptor structures (cones and rods) and enables the quantitative analysis of parameters such as cone density (DM), cone spacing (SM), cone regularity (REG), and Voronoi analysis (N%6). AO examinations were conducted on eyes diagnosed with Stargardt disease (STGD, N=36), cone dystrophy (CD, N=9), and cone-rod dystrophy (CRD, N=8), and on healthy eyes (N=14). There were significant differences in the DM, SM, REG, and N%6 parameters between the healthy and IRD-affected eyes (p<0.001 for DM, SM, and REG; p=0.008 for N%6). The mean DM in the CD, CRD, and STGD groups was 8900.39/mm2, 9296.32/mm2, and 16,209.66/mm2, respectively, with a significant inter-group difference (p=0.006). The mean SM in the CD, CRD, and STGD groups was 12.37 μm, 14.82 μm, and 9.65 μm, respectively, with a significant difference observed between groups (p=0.002). However, no significant difference was found in REG and N%6 among the CD, CRD, and STGD groups. Significant differences were found in SM and DM between CD and STGD (p=0.014 for SM; p=0.003 for DM) and between CRD and STGD (p=0.027 for SM; p=0.003 for DM). Our findings suggest that AO holds significant potential as an impactful diagnostic tool for IRDs.</abstract><cop>Switzerland</cop><pub>MDPI AG</pub><pmid>37568834</pmid><doi>10.3390/diagnostics13152472</doi><orcidid>https://orcid.org/0009-0006-0354-3993</orcidid><orcidid>https://orcid.org/0000-0002-6946-970X</orcidid><orcidid>https://orcid.org/0000-0001-9100-0847</orcidid><orcidid>https://orcid.org/0000-0003-1747-0183</orcidid><orcidid>https://orcid.org/0000-0003-0366-1448</orcidid><oa>free_for_read</oa></addata></record> |
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subjects | adaptive optics Atrophy cone dystrophy cone-rod dystrophy Disease Genes inherited retinal diseases inherited retinal dystrophies Morphology Mutation Photoreceptors Retina |
title | Characteristics of Rare Inherited Retinal Dystrophies in Adaptive Optics-A Study on 53 Eyes |
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