Retinitis Pigmentosa

Question 1

Pathophsiology

Answer 1

• Congenital inherited condition where there is degeneration of the rods and cones in the retina.

Question 2

Presentation

Answer 2

• Nightblindness is often the first symptom
• Peripheral vision lost before central vision

Question 3

Fundoscopy

Answer 3

• Pigmentation - described as ‘bone-spicule’ pigmentation.
• Spicule refers to sharp, pointed objects - bone-spicule refers to the similarity to bone matrix.
• Pigmentation usually concentrated around the mid-peripheral area of the retina.
• Can be associated narrowing of the arterioles and a waxy or pale appearance to the optic disc.

Question 4

Associated systemic diseases

Answer 4

• Usher’s syndrome (causes hearing loss and RP)
• Bassen-Kornzweig syndrome (disorder of fat absorption and metabolism causing progresive neurological symptoms and RP)
• Refsum’s disease (metabolic disorder of phytanic acid causing neurological, hearing and skin symptoms with RP)

Question 5

Management

Answer 5

• Referral to ophthalmology
• Genetic testing
• Visual aids
• Sunglasses to protect retina from accelerated damage
• Regular follow-up to assess for other potentially reversible conditions