Imaging in inherited retinal disorders

Eur J Ophthalmol. 2021 Jul;31(4):1656-1676. doi: 10.1177/1120672121990578. Epub 2021 Feb 1.


Inherited retinal diseases, which results from mutations in over 260 identified genes, affect more than 2 million people globally. The diseases mostly cause severe vision loss in young working population and have severe impact on social economic status of the population. Advances in retinal imaging techniques along with developments in gene identification and cell biology techniques have yielded to a better understanding of the genetic and biochemical mechanisms causing these diseases. Retinal imaging along with through ophthalmological examination is essential to make an accurate diagnosis, to decrease the burden of unneccessary anciliary tests and to select the potential patients that can get benefit from the gene treatment. The purpose of the review is to yield an update on inherited retinal diseases by highlighting microstructural changes in retina and to summarize the retinal changes detected by currently available multimodal imaging techniques.

Keywords: OCT; Retinal imaging; SD-OCT; inherited retinal disease; inherited retinal disorders.

Publication types

  • Review

MeSH terms

  • Humans
  • Multimodal Imaging
  • Mutation
  • Retina
  • Retinal Diseases* / diagnosis
  • Retinal Diseases* / genetics
  • Tomography, Optical Coherence
  • Vision Disorders