Inherited retinal diseases: Therapeutics, clinical trials and end points-A review

Clin Exp Ophthalmol. 2021 Apr;49(3):270-288. doi: 10.1111/ceo.13917. Epub 2021 Mar 20.

Abstract

Inherited retinal diseases (IRDs) are a clinically and genetically heterogeneous group of disorders characterised by photoreceptor degeneration or dysfunction. These disorders typically present with severe vision loss that can be progressive, with disease onset ranging from congenital to late adulthood. The advances in genetics, retinal imaging and molecular biology, have conspired to create the ideal environment for establishing treatments for IRDs, with the first approved gene therapy and the commencement of multiple clinical trials. The scope of this review is to familiarise clinicians and scientists with the current management and the prospects for novel therapies for: (1) macular dystrophies, (2) cone and cone-rod dystrophies, (3) cone dysfunction syndromes, (4) Leber congenital amaurosis, (5) rod-cone dystrophies, (6) rod dysfunction syndromes and (7) chorioretinal dystrophies. We also briefly summarise the investigated end points for the ongoing trials.

Keywords: gene therapy; inherited retinal disease; pharmacological therapy; retina; stem cell.

Publication types

  • Review

MeSH terms

  • Adult
  • Humans
  • Leber Congenital Amaurosis* / diagnosis
  • Leber Congenital Amaurosis* / genetics
  • Leber Congenital Amaurosis* / therapy
  • Retina
  • Retinal Cone Photoreceptor Cells
  • Retinal Dystrophies* / diagnosis
  • Retinal Dystrophies* / genetics
  • Retinal Dystrophies* / therapy
  • Retinitis Pigmentosa*