Introduction and Discovery of Retinitis Pigmentosa

Methods Mol Biol. 2023:2560:1-14. doi: 10.1007/978-1-0716-2651-1_1.

Abstract

Retinitis pigmentosa (RP) is the most common inherited retinal dystrophy. There are three main characteristics of RP: night blindness, retinal pigmentation, and visual field constriction. Among these three features, night blindness was the first to be discovered, which could be dated back to the ancient Egyptians at around 1500 BC. However, the night blindness described at that time was most likely associated with vitamin A deficiency rather than RP. Retinitis pigmentosa was first described in cadaver anatomic dissection before the invention of the ophthalmoscope. However, it was not linked to RP or night blindness. It was not until the invention of the ophthalmoscope that ophthalmologists could truly look into the eye and correlate the retinal pigmentation with clinical symptoms, such as night blindness and visual field constriction. In 1983, at a RP workshop that gathered together many experts, a consensus was reached regarding the terminology and guidelines for the diagnosis of RP. In this chapter, we will introduce the history and discovery of RP along with its characteristics.

Keywords: Night blindness; Nyctalopia; Retina pigmentation; Retinitis pigmentosa (RP).

MeSH terms

  • Humans
  • Night Blindness*
  • Retinitis Pigmentosa* / diagnosis