We prioritised the selected conditions based on: (I) their prevalence, (II) ongoing trial(s) of novel therapeutics, and (III) distinctive imaging findings. Here, we categorise IRD on the basis of the primarily affected retinal cell-type and disease natural history (stationary or progressive). They constitute the leading cause of legal blindness in England and Wales amongst working-age adults, and the second commonest in childhood ( 1), having a great impact on the individuals and families affected ( 2), and they are subject to a range of interventions and research avenues ( 3). Diagnosis commonly involved multimodal retinal imaging, as well as psychophysical and electrophysiological evaluation. The inherited retinal diseases (IRD) have heterogeneous clinical presentation, which can result in diagnostic challenge. Received: 09 March 2020 Accepted: 22 June 2020 Published: 15 September 2020. Keywords: Retinal imaging inherited retinal disease retinitis pigmentosa macular dystrophy leber congenital amaurosis Herein we present in a comprehensive and concise manner the imaging findings of: (I) macular dystrophies (MD), (II) cone and cone-rod dystrophies ( GUCA1A, PRPH2, ABCA4 and RPGR), (III) cone dysfunction syndromes, blue-cone monochromatism ( OPN1LW/OPN1MW array), oligocone trichromacy, bradyopsia ( RGS9/R9AP) and Bornholm eye disease ( OPN1LW/OPN1MW), (IV) Leber congenital amaurosis ( GUCY2D, CEP290, CRB1, RDH12, RPE65, TULP1, AIPL1 and NMNAT1), (V) rod-cone dystrophies, (VI) rod dysfunction syndromes (congenital stationary night blindness, fundus albipunctatus ( RDH5), Oguchi disease ( SAG, GRK1), and (VII) chorioretinal dystrophies. The scope of this review is to familiarize clinicians and scientists with the current landscape of retinal imaging in IRD. 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. Policy of Dealing with Allegations of Research MisconductĪbstract: Inherited retinal diseases (IRD) are a leading cause of blindness in the working age population.Policy of Screening for Plagiarism Process.
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