Retinitis pigmentosa

Question 1

Retinitis pigmentosa

Answer 1

This man has been complaining of difficulty seeing at night.
Please examine his eyes.

Question 2

Clinical signs of Retinitis pigmentosa

Answer 2

1. White stick and braille book (registered blind)
2. Reduced peripheral field of vision (tunnel vision)
3. Fundoscopy
   a. Peripheral retina ‘bone spicule pigmentation’, which follows the veins and spares the macula.
   b. Optic atrophy due to neuronal loss (consecutive).
   Association: cataract (absent red reflex).

Question 3

‘At a glance’ findings can help make the diagnosis of Retinitis Pigmentosa

Answer 3

1. Ataxic: Friedreich’s ataxia, abetalipoproteinaemia, Refsum’s disease, Kearns–Sayre syndrome
2. Deafness (hearing‐aid/white stick with red stripes): Refsum’s disease, Kearns– Sayre syndrome, Usher’s disease
3. Ophthalmoplegia/ptosis and permanent pacemaker: Kearns–Sayre syndrome
4. Polydactyly: Laurence–Moon–Biedl syndrome
5. Icthyosis: Refsum’s disease

Question 4

Discussion in Retinitis Pigmentosa

Answer 4

> > Inherited form of retinal degeneration characterized by loss of photo receptors

Question 5

Causes of Retinitis Pigmentosa

Answer 5

a. Congenital: often autosomal recessive inheritance, 15% due to rhodopsin pigment mutations
b. Acquired: post‐inflammatory retinitis

Question 6

Prognosis of Retinitis Pigmentosa

Answer 6

1. Progressive loss of vision due to retinal degeneration. Begins with reduced night vision. Most are registered blind at 40 years, with central visual loss in the seventh decade
2. No treatment although vitamin A may slow disease progression

Question 7

Causes of tunnel vision

Answer 7

1. Papilloedema
2. Glaucoma
3. Choroidoretinitis
4. Migraine
5. Hysteria