Retinitis pigmentosa

Question 1

what is retinitis pigmentosa?

Answer 1

Retinitis pigmentosa (RP), or pigmentary retinal dystrophy, denotes a clinically and genetically diverse group of inherited diffuse retinal degenerative diseases, initially predominantly affecting the rod photoreceptors, with later degeneration of cones.

Question 2

what is symptoms of retinitis pigmentosa?

Answer 2

• Frequently present with nyctalopia (night blindness) and dark adaptation difficulties, peripheral vision may be reduced (due to rods being predominantly affected first)
• Can progress to manifest reduced central and colour vision (involvement of cones)
• FHx of RP 🡪 prepare pedigree (family tree) to determine inheritance pattern, as this determines the age of onset, rate of progression, eventual visual loss, and other associated ocular features

Question 3

what are the signs of retinitis pigmentosa?

Answer 3

• Visual acuity (VA) may be normal
• Contrast sensitivity is affected earlier than VA
• Classic triad: (1) bone-spicule retinal pigmentation, (2) arteriolar attenuation, and (3) waxy disc pallor

Question 4

what are the investigation for retinitis pigmentosa?

Answer 4

• Electroretinography (ERG): assess function of rods/cones

- Optical coherence tomography (OCT)