Ophthalmology - Retinitis Pigmentosa

Question 1

What is retinitis pigmentosa?

Answer 1

Genetic condition causing degeneration of the photoreceptors in the retina, particularly the rods

Can involve isolated retinitis pigmentosa, while others result in systemic disease associated with the condition

Question 2

What are the primary symptoms of retinitis pigmentosa?

Answer 2

Typically start in childhood
* Night blindness (first symptom)
* Peripheral vision loss

Question 3

Which photoreceptors degenerate more in retinitis pigmentosa?

Answer 3

Rods more than cones

Rods are responsible for night vision and peripheral vision

Question 4

What characteristic finding is observed on fundoscopy in retinitis pigmentosa?

Answer 4

Bone-spicule pigmentation

Most concentrated around mid-peripheral area of retina

Question 5

What does ‘bone-spicule’ pigmentation refer to?

Answer 5

The sharp, pointed appearance resembling the networking of the bone matrix

‘Spicule’ describes the pointed appearance.

Question 6

What changes can be observed in the optic disc in retinitis pigmentosa?

Answer 6

Waxy or pale appearance of the optic disc

Narrowing of arterioles

Question 7

Which systemic diseases are associated with retinitis pigmentosa?

Answer 7

• Usher syndrome (also causes hearing loss)
• Bassen-Kornzweig syndrome (also causes progressive neurological impairments)
• Refsum disease (also causes peripheral neuropathy, hearing and icthyosis (scalded skin))

Question 8

What are the general management strategies for retinitis pigmentosa?

Answer 8

• Referral to an ophthalmologist
• Genetic counselling
• Vision aids
• Sunglasses for retinal protection
• Driving limitations and informing the DVLA

Little options able to slow disease