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 (), X-linked retinoschisis (), Best disease (), associated pattern dystrophy, Sorsby fundus dystrophy (), and autosomal dominant drusen ()), (ii) cone and cone-rod dystrophies (, , and ) (iii) predominant rod or rod-cone dystrophies (retinitis pigmentosa, enhanced S-Cone syndrome (), Bietti crystalline corneoretinal dystrophy ()), (iv) Leber congenital amaurosis/early-onset severe retinal dystrophy (, , , , , and ) (v) cone dysfunction syndromes (achromatopsia (), X-linked cone dysfunction with myopia and dichromacy (Bornholm Eye disease; array), oligocone trichromacy, and blue-cone monochromatism ( 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.

中文翻译：

---

遗传性视网膜疾病的表型和基因分型：黄斑营养不良、视锥细胞和视锥杆细胞营养不良、视杆细胞视锥细胞营养不良、莱伯先天性黑蒙和视锥细胞功能障碍综合征的分子遗传学、临床和影像学特征以及治疗


遗传性视网膜疾病（IRD）是劳动年龄人口和儿童失明的主要原因。本次综述的范围是让临床医生和科学家熟悉 IRD 的分子遗传学、临床表型、视网膜成像和治疗前景/已完成试验的当前状况。在此，我们全面而简洁地介绍：（i）黄斑营养不良（Stargardt病（）、X连锁视网膜劈裂症（）、Best病（）、相关型营养不良、Sorsby眼底营养不良（）和常染色体显性玻璃膜疣（）） 、(ii) 视锥细胞和视锥杆细胞营养不良 (、 和 ) (iii) 显性视杆细胞或视杆细胞营养不良（色素性视网膜炎、增强型 S-视锥细胞综合征 ()、Bietti 结晶性角膜视网膜营养不良 ())、(iv) Leber 先天性黑蒙/早发性严重视网膜营养不良 (, , , , , 和 ) (v) 视锥细胞功能障碍综合征（色盲 ()、伴有近视和二色视的 X 连锁视锥细胞功能障碍（博恩霍尔姆眼病；阵列）、寡视锥细胞三色视和蓝视锥单色性（阵列））。虽然我们使用上述经典表型分组，但 IRD 的一个关键特征是其具有巨大的异质性和可变的表达性，其中几个上述基因与一系列表型相关。