Michalis Georgiou, Kaoru Fujinami, Michel Michaelides
{"title":"遗传性视网膜疾病的视网膜成像。","authors":"Michalis Georgiou, Kaoru Fujinami, Michel Michaelides","doi":"10.21037/aes-20-81","DOIUrl":null,"url":null,"abstract":"<p><p>Inherited retinal diseases (IRD) are a leading cause of blindness in the working age population. The advances in ocular genetics, retinal imaging and molecular biology, have conspired to create the ideal environment for establishing treatments for IRD, with the first approved gene therapy and the commencement of multiple therapy trials. The scope of this review is to familiarize clinicians and scientists with the current landscape of retinal imaging in IRD. Herein we present in a comprehensive and concise manner the imaging findings of: (I) macular dystrophies (MD) [Stargardt disease (<i>ABCA4</i>), X-linked retinoschisis (<i>RS1</i>), Best disease (<i>BEST1</i>), pattern dystrophy (<i>PRPH2</i>), Sorsby fundus dystrophy (<i>TIMP3</i>), and autosomal dominant drusen (<i>EFEMP1</i>)], (II) cone and cone-rod dystrophies (<i>GUCA1A</i>, <i>PRPH2</i>, <i>ABCA4</i> and <i>RPGR</i>)<i>,</i> (III) cone dysfunction syndromes [achromatopsia (<i>CNGA3, CNGB3, PDE6C, PDE6H, GNAT2, ATF6</i>], blue-cone monochromatism (<i>OPN1LW/OPN1MW</i> array), oligocone trichromacy, bradyopsia (<i>RGS9/R9AP</i>) and Bornholm eye disease (<i>OPN1LW/OPN1MW</i>), (IV) Leber congenital amaurosis (<i>GUCY2D</i>, <i>CEP290</i>, <i>CRB1</i>, <i>RDH12</i>, <i>RPE65, TULP1</i>, <i>AIPL1</i> and <i>NMNAT1</i>)<i>,</i> (V) rod-cone dystrophies [retinitis pigmentosa, enhanced S-Cone syndrome (<i>NR2E3</i>), Bietti crystalline corneoretinal dystrophy (<i>CYP4V2</i>)], (VI) rod dysfunction syndromes (congenital stationary night blindness, fundus albipunctatus (<i>RDH5</i>)<i>,</i> Oguchi disease (<i>SAG</i>, <i>GRK1</i>), and (VII) chorioretinal dystrophies [choroideremia (<i>CHM</i>), gyrate atrophy (<i>OAT</i>)].</p>","PeriodicalId":8400,"journal":{"name":"Annals of Eye Science","volume":"5 ","pages":""},"PeriodicalIF":0.0000,"publicationDate":"2020-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/f7/2a/nihms-1685213.PMC8081382.pdf","citationCount":"0","resultStr":"{\"title\":\"Retinal imaging in inherited retinal diseases.\",\"authors\":\"Michalis Georgiou, Kaoru Fujinami, Michel Michaelides\",\"doi\":\"10.21037/aes-20-81\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>Inherited retinal diseases (IRD) are a leading cause of blindness in the working age population. The advances in ocular genetics, retinal imaging and molecular biology, have conspired to create the ideal environment for establishing treatments for IRD, with the first approved gene therapy and the commencement of multiple therapy trials. The scope of this review is to familiarize clinicians and scientists with the current landscape of retinal imaging in IRD. Herein we present in a comprehensive and concise manner the imaging findings of: (I) macular dystrophies (MD) [Stargardt disease (<i>ABCA4</i>), X-linked retinoschisis (<i>RS1</i>), Best disease (<i>BEST1</i>), pattern dystrophy (<i>PRPH2</i>), Sorsby fundus dystrophy (<i>TIMP3</i>), and autosomal dominant drusen (<i>EFEMP1</i>)], (II) cone and cone-rod dystrophies (<i>GUCA1A</i>, <i>PRPH2</i>, <i>ABCA4</i> and <i>RPGR</i>)<i>,</i> (III) cone dysfunction syndromes [achromatopsia (<i>CNGA3, CNGB3, PDE6C, PDE6H, GNAT2, ATF6</i>], blue-cone monochromatism (<i>OPN1LW/OPN1MW</i> array), oligocone trichromacy, bradyopsia (<i>RGS9/R9AP</i>) and Bornholm eye disease (<i>OPN1LW/OPN1MW</i>), (IV) Leber congenital amaurosis (<i>GUCY2D</i>, <i>CEP290</i>, <i>CRB1</i>, <i>RDH12</i>, <i>RPE65, TULP1</i>, <i>AIPL1</i> and <i>NMNAT1</i>)<i>,</i> (V) rod-cone dystrophies [retinitis pigmentosa, enhanced S-Cone syndrome (<i>NR2E3</i>), Bietti crystalline corneoretinal dystrophy (<i>CYP4V2</i>)], (VI) rod dysfunction syndromes (congenital stationary night blindness, fundus albipunctatus (<i>RDH5</i>)<i>,</i> Oguchi disease (<i>SAG</i>, <i>GRK1</i>), and (VII) chorioretinal dystrophies [choroideremia (<i>CHM</i>), gyrate atrophy (<i>OAT</i>)].</p>\",\"PeriodicalId\":8400,\"journal\":{\"name\":\"Annals of Eye Science\",\"volume\":\"5 \",\"pages\":\"\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2020-09-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/f7/2a/nihms-1685213.PMC8081382.pdf\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Annals of Eye Science\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.21037/aes-20-81\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"2020/9/15 0:00:00\",\"PubModel\":\"Epub\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Annals of Eye Science","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.21037/aes-20-81","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2020/9/15 0:00:00","PubModel":"Epub","JCR":"","JCRName":"","Score":null,"Total":0}
Inherited retinal diseases (IRD) are a leading cause of blindness in the working age population. The advances in ocular genetics, retinal imaging and molecular biology, have conspired to create the ideal environment for establishing treatments for IRD, with the first approved gene therapy and the commencement of multiple therapy trials. The scope of this review is to familiarize clinicians and scientists with the current landscape of retinal imaging in IRD. Herein we present in a comprehensive and concise manner the imaging findings of: (I) macular dystrophies (MD) [Stargardt disease (ABCA4), X-linked retinoschisis (RS1), Best disease (BEST1), pattern dystrophy (PRPH2), Sorsby fundus dystrophy (TIMP3), and autosomal dominant drusen (EFEMP1)], (II) cone and cone-rod dystrophies (GUCA1A, PRPH2, ABCA4 and RPGR), (III) cone dysfunction syndromes [achromatopsia (CNGA3, CNGB3, PDE6C, PDE6H, GNAT2, ATF6], blue-cone monochromatism (OPN1LW/OPN1MW array), oligocone trichromacy, bradyopsia (RGS9/R9AP) and Bornholm eye disease (OPN1LW/OPN1MW), (IV) Leber congenital amaurosis (GUCY2D, CEP290, CRB1, RDH12, RPE65, TULP1, AIPL1 and NMNAT1), (V) rod-cone dystrophies [retinitis pigmentosa, enhanced S-Cone syndrome (NR2E3), Bietti crystalline corneoretinal dystrophy (CYP4V2)], (VI) rod dysfunction syndromes (congenital stationary night blindness, fundus albipunctatus (RDH5), Oguchi disease (SAG, GRK1), and (VII) chorioretinal dystrophies [choroideremia (CHM), gyrate atrophy (OAT)].
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