Current Management Options for Patients with Retinitis Pigmentosa

Methods Mol Biol. 2023:2560:353-361. doi: 10.1007/978-1-0716-2651-1_32.

Abstract

With an estimated prevalence of 1 in 4000 worldwide [1], retinitis pigmentosa (RP) comprises a spectrum of progressive inherited retinal disorders that can lead to blindness as early as age 30 [2]. Despite its relatively high prevalence and devastating consequences, RP does not have a definitive cure. Therapeutic attempts have been made with nutritional supplementation, but these strategies only have proven benefit in a limited number of patients with rare forms of RP. Thus, current standards of care involve regular follow-up, management of associated ocular pathology such as macular edema and cataracts, and genetic counseling and low vision rehabilitation. In recent years, gene therapy, visual prostheses, and stem cell therapy have emerged as FDA-approved treatments for RP, but these options are not yet widely used. Herein, this chapter will discuss the therapeutic strategies listed above that comprise the current standards of care and briefly discuss some emerging options.

Keywords: Cataracts; Cystoid macular edema; Gene therapy; Management; Nutrition; Prostheses; Retinitis pigmentosa; Treatment; iPSCs.

MeSH terms

  • Adult
  • Genetic Counseling*
  • Humans
  • Retinitis Pigmentosa* / genetics
  • Retinitis Pigmentosa* / therapy