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

IF 18.6 1区 医学 Q1 OPHTHALMOLOGY Progress in Retinal and Eye Research Pub Date : 2024-01-24 DOI:10.1016/j.preteyeres.2024.101244
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
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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.

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遗传性视网膜疾病的表型和基因分型:黄斑营养不良症、视锥和视锥杆状营养不良症、视锥杆状营养不良症、勒伯先天性无视力症和视锥功能障碍综合征的分子遗传学、临床和成像特征以及治疗方法
遗传性视网膜疾病(IRD)是劳动适龄人口和儿童失明的主要原因。本综述的目的是让临床医生和科学家了解当前 IRD 的分子遗传学、临床表型、视网膜成像和治疗前景/已完成的试验。在此,我们将以全面而简洁的方式介绍以下内容:(i) 黄斑营养不良症(Stargardt 病(ABCA4)、X 连锁视网膜裂孔症(RS1)、Best 病(BEST1)、PRPH2 相关模式营养不良症、Sorsby 眼底营养不良症(TIMP3)、(ii)视锥和视锥-杆状营养不良(GUCA1A、PRPH2、ABCA4、KCNV2 和 RPGR),(iii)显性杆状或杆状-锥状营养不良(视网膜色素变性、(iv) Leber 先天性无视力症/早发严重视网膜营养不良(GUCY2D、CEP290、CRB1、RDH12、RPE65、TULP1、AIPL1 和 NMNAT1),(v) 视锥功能障碍综合征(无色觉(CNGA3、CNGB3、PDE6C、PDE6H、GNAT2、ATF6),X 连锁视锥功能障碍伴近视和重色(Bornholm Eye disease;OPN1LW/OPN1MW阵列)、少锥体三色性和蓝锥体单色性(OPN1LW/OPN1MW阵列)。虽然我们使用了上述经典的表型分组,但 IRD 的美妙之处在于它具有无与伦比的异质性和可变表达性,上述几种基因型与一系列表型相关。
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来源期刊
CiteScore
34.10
自引率
5.10%
发文量
78
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.
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