JCM, Vol. 13, Pages 2079: Retinal Imaging Findings in Inherited Retinal Diseases

JCM, Vol. 13, Pages 2079: Retinal Imaging Findings in Inherited Retinal Diseases

Journal of Clinical Medicine doi: 10.3390/jcm13072079

Authors: Giulia Corradetti Aditya Verma Jasaman Tojjar Louay Almidani Deniz Oncel Mehdi Emamverdi Alec Bradley Sophiana Lindenberg Muneeswar Gupta Nittala SriniVas R. Sadda

Inherited retinal diseases (IRDs) represent one of the major causes of progressive and irreversible vision loss in the working-age population. Over the last few decades, advances in retinal imaging have allowed for an improvement in the phenotypic characterization of this group of diseases and have facilitated phenotype-to-genotype correlation studies. As a result, the number of clinical trials targeting IRDs has steadily increased, and commensurate to this, the need for novel reproducible outcome measures and endpoints has grown. This review aims to summarize and describe the clinical presentation, characteristic imaging findings, and imaging endpoint measures that are being used in clinical research on IRDs. For the purpose of this review, IRDs have been divided into four categories: (1) panretinal pigmentary retinopathies affecting rods or cones; (2) macular dystrophies; (3) stationary conditions; (4) hereditary vitreoretinopathies.