Phenotyping and genotyping inherited retinal diseases: Molecular genetics, clinical and imaging features, and therapeutics of macular dystrophies, cone and cone-rod dystrophies, rod-cone dystrophies, Leber congenital amaurosis, and cone dysfunction syndromes
Michalis Georgiou , Anthony G. Robson , Kaoru Fujinami , Thales A.C. de Guimarães , Yu Fujinami-Yokokawa , Malena Daich Varela , Nikolas Pontikos , Angelos Kalitzeos , Omar A. Mahroo , Andrew R. Webster , Michel Michaelides
{"title":"Phenotyping and genotyping inherited retinal diseases: Molecular genetics, clinical and imaging features, and therapeutics of macular dystrophies, cone and cone-rod dystrophies, rod-cone dystrophies, Leber congenital amaurosis, and cone dysfunction syndromes","authors":"Michalis Georgiou , Anthony G. Robson , Kaoru Fujinami , Thales A.C. de Guimarães , Yu Fujinami-Yokokawa , Malena Daich Varela , Nikolas Pontikos , Angelos Kalitzeos , Omar A. Mahroo , Andrew R. Webster , Michel Michaelides","doi":"10.1016/j.preteyeres.2024.101244","DOIUrl":null,"url":null,"abstract":"<div><p>Inherited retinal diseases (IRD) are a leading cause of blindness in the working age population and in children. The scope of this review is to familiarise clinicians and scientists with the current landscape of molecular genetics, clinical phenotype, retinal imaging and therapeutic prospects/completed trials in IRD. Herein we present in a comprehensive and concise manner: (i) macular dystrophies (Stargardt disease (<em>ABCA4</em>), X-linked retinoschisis (<em>RS1</em>), Best disease (<em>BEST1</em>), <em>PRPH2-</em>associated pattern dystrophy, Sorsby fundus dystrophy (<em>TIMP3</em>), and autosomal dominant drusen (<em>EFEMP1</em>)), (ii) cone and cone-rod dystrophies (<em>GUCA1A</em>, <em>PRPH2</em>, <em>ABCA4, KCNV2</em> and <em>RPGR</em>)<em>,</em> (iii) predominant rod or rod-cone dystrophies (retinitis pigmentosa, enhanced S-Cone syndrome (<em>NR2E3</em>), Bietti crystalline corneoretinal dystrophy (<em>CYP4V2</em>)), (iv) Leber congenital amaurosis/early-onset severe retinal dystrophy (<em>GUCY2D</em>, <em>CEP290</em>, <em>CRB1</em>, <em>RDH12</em>, <em>RPE65, TULP1</em>, <em>AIPL1</em> and <em>NMNAT1</em>)<em>,</em> (v) cone dysfunction syndromes (achromatopsia (<em>CNGA3, CNGB3, PDE6C, PDE6H, GNAT2, ATF6</em>), X-linked cone dysfunction with myopia and dichromacy (Bornholm Eye disease; <em>OPN1LW/OPN1MW</em> array), oligocone trichromacy, and blue-cone monochromatism (<em>OPN1LW/OPN1MW</em> array)). Whilst we use the aforementioned classical phenotypic groupings, a key feature of IRD is that it is characterised by tremendous heterogeneity and variable expressivity, with several of the above genes associated with a range of phenotypes.</p></div>","PeriodicalId":21159,"journal":{"name":"Progress in Retinal and Eye Research","volume":"100 ","pages":"Article 101244"},"PeriodicalIF":18.6000,"publicationDate":"2024-01-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Progress in Retinal and Eye Research","FirstCategoryId":"3","ListUrlMain":"https://www.sciencedirect.com/science/article/pii/S1350946224000090","RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q1","JCRName":"OPHTHALMOLOGY","Score":null,"Total":0}
引用次数: 0
Abstract
Inherited retinal diseases (IRD) are a leading cause of blindness in the working age population and in children. The scope of this review is to familiarise clinicians and scientists with the current landscape of molecular genetics, clinical phenotype, retinal imaging and therapeutic prospects/completed trials in IRD. Herein we present in a comprehensive and concise manner: (i) macular dystrophies (Stargardt disease (ABCA4), X-linked retinoschisis (RS1), Best disease (BEST1), PRPH2-associated pattern dystrophy, Sorsby fundus dystrophy (TIMP3), and autosomal dominant drusen (EFEMP1)), (ii) cone and cone-rod dystrophies (GUCA1A, PRPH2, ABCA4, KCNV2 and RPGR), (iii) predominant rod or rod-cone dystrophies (retinitis pigmentosa, enhanced S-Cone syndrome (NR2E3), Bietti crystalline corneoretinal dystrophy (CYP4V2)), (iv) Leber congenital amaurosis/early-onset severe retinal dystrophy (GUCY2D, CEP290, CRB1, RDH12, RPE65, TULP1, AIPL1 and NMNAT1), (v) cone dysfunction syndromes (achromatopsia (CNGA3, CNGB3, PDE6C, PDE6H, GNAT2, ATF6), X-linked cone dysfunction with myopia and dichromacy (Bornholm Eye disease; OPN1LW/OPN1MW array), oligocone trichromacy, and blue-cone monochromatism (OPN1LW/OPN1MW array)). Whilst we use the aforementioned classical phenotypic groupings, a key feature of IRD is that it is characterised by tremendous heterogeneity and variable expressivity, with several of the above genes associated with a range of phenotypes.
期刊介绍:
Progress in Retinal and Eye Research is a Reviews-only journal. By invitation, leading experts write on basic and clinical aspects of the eye in a style appealing to molecular biologists, neuroscientists and physiologists, as well as to vision researchers and ophthalmologists.
The journal covers all aspects of eye research, including topics pertaining to the retina and pigment epithelial layer, cornea, tears, lacrimal glands, aqueous humour, iris, ciliary body, trabeculum, lens, vitreous humour and diseases such as dry-eye, inflammation, keratoconus, corneal dystrophy, glaucoma and cataract.