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.
摘要：
遗传性视网膜疾病（IRD）是工作年龄人口和儿童失明的主要原因。这篇综述的范围是让临床医生和科学家熟悉分子遗传学的现状，临床表型，视网膜成像和治疗前景/已完成的IRD试验。在这里，我们以全面和简洁的方式提出：(i)黄斑营养不良(Stargardt病(ABCA4)，X-连锁视网膜裂（RS1），最佳疾病（BEST1），PRPH2相关型营养不良，Sorsby眼底营养不良（TIMP3），和常染色体显性玻璃疣（EFEMP1），(ii)锥杆和锥杆营养不良(GUCA1A，PRPH2、ABCA4、KCNV2和RPGR），（iii）主要的杆状或杆状视锥营养不良（色素性视网膜炎，增强型S-锥形综合征（NR2E3），Bietti晶体视网膜新视网膜营养不良（CYP4V2），（iv）Leber先天性黑蒙/早发性重度视网膜营养不良（GUCY2D，CEP290，CRB1，RDH12，RPE65，TULP1，AIPL1和NMNAT1），（v）视锥功能障碍综合征（色盲（CNGA3，CNGB3，PDE6C，PDE6H,GNAT2,ATF6),X连锁视锥功能障碍伴近视和双色性（博恩霍尔姆眼病；OPN1LW/OPN1MW阵列），寡头视锥三色，和蓝锥单色（OPN1LW/OPN1MW阵列）。虽然我们使用上述经典表型分组，IRD的美妙之处在于它具有无与伦比的异质性和多变的表现力，与上述几种基因型相关的一系列表型。
