Georgiou Michalis, Fujinami Kaoru, Michaelides Michel
UCL Institute of Ophthalmology, University College London, London, UK.
Moorfields Eye Hospital NHS Foundation Trust, London, UK.
Ann Eye Sci. 2020 Sep;5. doi: 10.21037/aes-20-81. Epub 2020 Sep 15.
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 (), X-linked retinoschisis (), Best disease (), pattern dystrophy (), Sorsby fundus dystrophy (), and autosomal dominant drusen ()], (II) cone and cone-rod dystrophies (, , and ) (III) cone dysfunction syndromes [achromatopsia (], blue-cone monochromatism ( array), oligocone trichromacy, bradyopsia () and Bornholm eye disease (), (IV) Leber congenital amaurosis (, , , , , and ) (V) rod-cone dystrophies [retinitis pigmentosa, enhanced S-Cone syndrome (), Bietti crystalline corneoretinal dystrophy ()], (VI) rod dysfunction syndromes (congenital stationary night blindness, fundus albipunctatus () Oguchi disease (, ), and (VII) chorioretinal dystrophies [choroideremia (), gyrate atrophy ()].
遗传性视网膜疾病（IRD）是工作年龄人群失明的主要原因。眼部遗传学、视网膜成像和分子生物学的进展，共同为建立IRD治疗方法创造了理想环境，首个获批的基因疗法以及多项治疗试验已启动。本综述的目的是让临床医生和科学家熟悉IRD中视网膜成像的当前情况。在此，我们以全面且简洁的方式呈现以下疾病的成像结果：（I）黄斑营养不良（MD）[斯塔加特病（）、X连锁视网膜劈裂症（）、贝斯特病（）、图案性营养不良（）、索斯比眼底营养不良（）和常染色体显性玻璃膜疣（）]，（II）视锥和视锥-视杆营养不良（，，和），（III）视锥功能障碍综合征[全色盲（]、蓝锥单色视（阵列）、少视锥三色视、视力减退（）和博恩霍尔姆眼病（），（IV）莱伯先天性黑矇（，，，，，和），（V）视杆-视锥营养不良[视网膜色素变性、增强型S视锥综合征（）、比埃蒂结晶性角膜视网膜营养不良（）]，（VI）视杆功能障碍综合征（先天性静止性夜盲、白点状眼底（）、小口病（，），以及（VII）脉络膜视网膜营养不良[脉络膜萎缩（）、回旋状萎缩（）]。
