New insights in the multimodal imaging of retinitis pigmentosa

Eur J Ophthalmol. 2024 Mar;34(2):357-366. doi: 10.1177/11206721231172863. Epub 2023 Apr 27.

Abstract

Retinitis pigmentosa (RP) is a group of inherited rod-cone dystrophies, noted for a high genotypical and phenotypical heterogeneity.Traditionally, VA, visual field, and electroretinography have been used to assess RP progression. However, visual acuity and visual field tests are essentially subjective and, especially in the late stages of the disease, are unable to confidently reveal minor progression. Therefore, there is a need for novel examination modalities that rely on quantitative, structural measurements. In this regard, several non-invasive imaging techniques have been studied, including spectral-domain optical coherence tomography, optical coherence tomography angiography, and fundus autofluorescence. By correlating surrogate biomarkers with functional measurements of the disease, these techniques may be able to develop reliable outcome meters that can be used to gain a deeper understanding of the underlying causes of the disease and to assess the effectiveness of therapy even before an actual loss of vision occurs.In this review, we will summarize the recent imaging findings and biomarkers that have been identified in RP patients. Our goal is to provide information that can promptly aid in selecting patients for clinical trials and new gene therapies, monitoring the disease progression, and evaluating treatment outcomes.

Keywords: OCT; OCTA; Retinitis pigmentosa; imaging; retina.

Publication types

  • Review

MeSH terms

  • Biomarkers
  • Electroretinography
  • Humans
  • Multimodal Imaging
  • Retina
  • Retinitis Pigmentosa* / diagnostic imaging
  • Retinitis Pigmentosa* / genetics
  • Tomography, Optical Coherence
  • Visual Fields

Substances

  • Biomarkers