RPGR-Associated Dystrophies: Clinical, Genetic, and Histopathological Features
This study describes the clinical, genetic, and histopathological features in patients with RPGR-associated retinal dystrophies. Nine male patients from eight unrelated families underwent a comprehensive ophthalmic examination. Additionally, the histopathology of the right eye from a patient with an...
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| Veröffentlicht in: | International journal of molecular sciences 2020-01, Vol.21 (3), p.835, Article 835 |
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| creator | Xuan-Thanh-An Nguyen Talib, Mays van Schooneveld, Mary J. Brinks, Joost ten Brink, Jacoline Florijn, Ralph J. Wijnholds, Jan Verdijk, Robert M. Bergen, Arthur A. Boon, Camiel J. F. |
| description | This study describes the clinical, genetic, and histopathological features in patients with RPGR-associated retinal dystrophies. Nine male patients from eight unrelated families underwent a comprehensive ophthalmic examination. Additionally, the histopathology of the right eye from a patient with an end-stage cone-rod-dystrophy (CRD)/sector retinitis pigmentosa (RP) phenotype was examined. All RPGR mutations causing a CRD phenotype were situated in exon ORF15. The mean best-corrected visual acuity (BCVA, decimals) was 0.58 (standard deviation (SD)): 0.34; range: 0.05-1.13); and the mean spherical refractive error was -4.1 D (SD: 2.11; range: -1.38 to -8.19). Hyperautofluorescent rings were observed in six patients. Full-field electroretinography responses were absent in all patients. The visual field defects ranged from peripheral constriction to central islands. The mean macular sensitivity on microperimetry was 11.6 dB (SD: 7.8; range: 1.6-24.4) and correlated significantly with BCVA (r = 0.907; p = 0.001). A histological examination of the donor eye showed disruption of retinal topology and stratification, with a more severe loss found in the peripheral regions. Reactive gliosis was seen in the inner layers of all regions. Our study demonstrates the highly variable phenotype found in RPGR-associated retinal dystrophies. Therapies should be applied at the earliest signs of photoreceptor degeneration, prior to the remodeling of the inner retina. |
| doi_str_mv | 10.3390/ijms21030835 |
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F.</creator><creatorcontrib>Xuan-Thanh-An Nguyen ; Talib, Mays ; van Schooneveld, Mary J. ; Brinks, Joost ; ten Brink, Jacoline ; Florijn, Ralph J. ; Wijnholds, Jan ; Verdijk, Robert M. ; Bergen, Arthur A. ; Boon, Camiel J. F.</creatorcontrib><description>This study describes the clinical, genetic, and histopathological features in patients with RPGR-associated retinal dystrophies. Nine male patients from eight unrelated families underwent a comprehensive ophthalmic examination. Additionally, the histopathology of the right eye from a patient with an end-stage cone-rod-dystrophy (CRD)/sector retinitis pigmentosa (RP) phenotype was examined. All RPGR mutations causing a CRD phenotype were situated in exon ORF15. The mean best-corrected visual acuity (BCVA, decimals) was 0.58 (standard deviation (SD)): 0.34; range: 0.05-1.13); and the mean spherical refractive error was -4.1 D (SD: 2.11; range: -1.38 to -8.19). Hyperautofluorescent rings were observed in six patients. Full-field electroretinography responses were absent in all patients. The visual field defects ranged from peripheral constriction to central islands. The mean macular sensitivity on microperimetry was 11.6 dB (SD: 7.8; range: 1.6-24.4) and correlated significantly with BCVA (r = 0.907; p = 0.001). A histological examination of the donor eye showed disruption of retinal topology and stratification, with a more severe loss found in the peripheral regions. Reactive gliosis was seen in the inner layers of all regions. Our study demonstrates the highly variable phenotype found in RPGR-associated retinal dystrophies. 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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 (http://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>2020 by the authors. 2020</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>true</woscitedreferencessubscribed><woscitedreferencescount>25</woscitedreferencescount><woscitedreferencesoriginalsourcerecordid>wos000522551602048</woscitedreferencesoriginalsourcerecordid><citedby>FETCH-LOGICAL-c478t-700ff014bdccbdc558ad07a225f16a94ed2b6e3793f2ca4a5ea264ef22e1e7d53</citedby><cites>FETCH-LOGICAL-c478t-700ff014bdccbdc558ad07a225f16a94ed2b6e3793f2ca4a5ea264ef22e1e7d53</cites><orcidid>0000-0002-6333-9576 ; 0000-0002-6737-7932 ; 0000-0003-1437-214X ; 0000-0003-0099-460X ; 0000-0001-8350-5896 ; 0000-0001-7884-0067</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/PMC7038140/pdf/$$EPDF$$P50$$Gpubmedcentral$$Hfree_for_read</linktopdf><linktohtml>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC7038140/$$EHTML$$P50$$Gpubmedcentral$$Hfree_for_read</linktohtml><link.rule.ids>230,315,728,781,785,886,27929,27930,28253,53796,53798</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/32012938$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Xuan-Thanh-An Nguyen</creatorcontrib><creatorcontrib>Talib, Mays</creatorcontrib><creatorcontrib>van Schooneveld, Mary J.</creatorcontrib><creatorcontrib>Brinks, Joost</creatorcontrib><creatorcontrib>ten Brink, Jacoline</creatorcontrib><creatorcontrib>Florijn, Ralph J.</creatorcontrib><creatorcontrib>Wijnholds, Jan</creatorcontrib><creatorcontrib>Verdijk, Robert M.</creatorcontrib><creatorcontrib>Bergen, Arthur A.</creatorcontrib><creatorcontrib>Boon, Camiel J. F.</creatorcontrib><title>RPGR-Associated Dystrophies: Clinical, Genetic, and Histopathological Features</title><title>International journal of molecular sciences</title><addtitle>INT J MOL SCI</addtitle><addtitle>Int J Mol Sci</addtitle><description>This study describes the clinical, genetic, and histopathological features in patients with RPGR-associated retinal dystrophies. Nine male patients from eight unrelated families underwent a comprehensive ophthalmic examination. Additionally, the histopathology of the right eye from a patient with an end-stage cone-rod-dystrophy (CRD)/sector retinitis pigmentosa (RP) phenotype was examined. All RPGR mutations causing a CRD phenotype were situated in exon ORF15. The mean best-corrected visual acuity (BCVA, decimals) was 0.58 (standard deviation (SD)): 0.34; range: 0.05-1.13); and the mean spherical refractive error was -4.1 D (SD: 2.11; range: -1.38 to -8.19). Hyperautofluorescent rings were observed in six patients. 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Therapies should be applied at the earliest signs of photoreceptor degeneration, prior to the remodeling of the inner retina.</description><subject>Acuity</subject><subject>Age</subject><subject>Atrophy</subject><subject>Biochemistry & Molecular Biology</subject><subject>Cataracts</subject><subject>Chemistry</subject><subject>Chemistry, Multidisciplinary</subject><subject>Decimals</subject><subject>Degeneration</subject><subject>Dystrophy</subject><subject>Electroretinography</subject><subject>Eye surgery</subject><subject>Gene therapy</subject><subject>Genotype & phenotype</subject><subject>Gliosis</subject><subject>histopathology</subject><subject>Life Sciences & Biomedicine</subject><subject>Medical records</subject><subject>Mutation</subject><subject>natural history</subject><subject>Patients</subject><subject>Phenotypes</subject><subject>Photoreceptors</subject><subject>Physical Sciences</subject><subject>Proteins</subject><subject>Retina</subject><subject>Retinal degeneration</subject><subject>retinal dystrophies</subject><subject>Retinitis</subject><subject>Retinitis pigmentosa</subject><subject>retinitis pigmentosa gtpase regulator (rpgr), cone-rod dystrophy</subject><subject>Science & Technology</subject><subject>Topology</subject><subject>Visual acuity</subject><subject>Visual field</subject><subject>Visual fields</subject><issn>1422-0067</issn><issn>1661-6596</issn><issn>1422-0067</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2020</creationdate><recordtype>article</recordtype><sourceid>AOWDO</sourceid><sourceid>8G5</sourceid><sourceid>ABUWG</sourceid><sourceid>AFKRA</sourceid><sourceid>AZQEC</sourceid><sourceid>BENPR</sourceid><sourceid>CCPQU</sourceid><sourceid>DWQXO</sourceid><sourceid>GNUQQ</sourceid><sourceid>GUQSH</sourceid><sourceid>M2O</sourceid><sourceid>DOA</sourceid><recordid>eNqNkUtv1DAQgCMEoqVw44wicUHqBsavOOaAVAW6rVQBquBseZ3JrlfZeGs7VP33uGxZbTlx8EOebz6NZ4riNYH3jCn44NabSAkwaJh4UhwTTmkFUMunB_ej4kWMawDKqFDPiyNGgVDFmuPi6_X3-XV1FqO3ziTsys93MQW_XTmMH8t2cKOzZpiVcxwxOTsrzdiVFy4mvzVp5Qe_vI-X52jSFDC-LJ71Zoj46uE8KX6ef_nRXlRX3-aX7dlVZblsUiUB-h4IX3TW5iVEYzqQhlLRk9oojh1d1MikYj21hhuBhtYce0qRoOwEOykud97Om7XeBrcx4U574_SfBx-W2oRc74BaUCUtWlAd9NzWoPKejaxhRqKsF9n1aefaTosNdhbHFMzwSPo4MrqVXvpfWgJrCIcsePcgCP5mwpj0xkWLw2BG9FPUlAlQoBpKM_r2H3TtpzDmVmkqeFNLLpXM1GxH2eBjDNjviyGg74euD4ee8TeHH9jDf6ecgWYH3OLC99E6HC3uMQAQufOC1ECBN61LJjk_tn4aU049_f9U9hupeMjl</recordid><startdate>20200128</startdate><enddate>20200128</enddate><creator>Xuan-Thanh-An Nguyen</creator><creator>Talib, Mays</creator><creator>van Schooneveld, Mary J.</creator><creator>Brinks, Joost</creator><creator>ten Brink, Jacoline</creator><creator>Florijn, Ralph J.</creator><creator>Wijnholds, Jan</creator><creator>Verdijk, Robert M.</creator><creator>Bergen, Arthur A.</creator><creator>Boon, Camiel J. 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F.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>RPGR-Associated Dystrophies: Clinical, Genetic, and Histopathological Features</atitle><jtitle>International journal of molecular sciences</jtitle><stitle>INT J MOL SCI</stitle><addtitle>Int J Mol Sci</addtitle><date>2020-01-28</date><risdate>2020</risdate><volume>21</volume><issue>3</issue><spage>835</spage><pages>835-</pages><artnum>835</artnum><issn>1422-0067</issn><issn>1661-6596</issn><eissn>1422-0067</eissn><abstract>This study describes the clinical, genetic, and histopathological features in patients with RPGR-associated retinal dystrophies. Nine male patients from eight unrelated families underwent a comprehensive ophthalmic examination. Additionally, the histopathology of the right eye from a patient with an end-stage cone-rod-dystrophy (CRD)/sector retinitis pigmentosa (RP) phenotype was examined. All RPGR mutations causing a CRD phenotype were situated in exon ORF15. 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| subjects | Acuity Age Atrophy Biochemistry & Molecular Biology Cataracts Chemistry Chemistry, Multidisciplinary Decimals Degeneration Dystrophy Electroretinography Eye surgery Gene therapy Genotype & phenotype Gliosis histopathology Life Sciences & Biomedicine Medical records Mutation natural history Patients Phenotypes Photoreceptors Physical Sciences Proteins Retina Retinal degeneration retinal dystrophies Retinitis Retinitis pigmentosa retinitis pigmentosa gtpase regulator (rpgr), cone-rod dystrophy Science & Technology Topology Visual acuity Visual field Visual fields |
| title | RPGR-Associated Dystrophies: Clinical, Genetic, and Histopathological Features |
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