Retinitis Pigmentosa

Question 1

Pathophysiology of retinitis pigmentosa

Answer 1

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

Question 2

Presentation of retinitis pigmentosa

Answer 2

Symptoms commonly present in childhood

• Night blindness (rods degenerate more than cones)
• Peripheral vision is lost before the central vision

Question 3

Presentation of retinitis pigmentosa on fundoscopy

Answer 3

“bone-spicule” pigmentation.

The pigmentation is most concentrated around the mid-peripheral area of the retina.

Associated narrowing of the arterioles and a waxy or pale appearance to the optic disc

Question 4

Systemic diseases associated with retinitis pigmentosa

Answer 4

Usher’s Syndrome - causes hearing loss plus retinitis pigmentosa

Bassen-Kornzweig Syndrome - fat absorption and metabolism disorder causing progressive neurological symptoms and retinitis pigmentosa

Refsum’s Disease -metabolic disorder of phytanic acid causing neurological, hearing and skin symptoms and retinitis pigmentosa

Question 5

General

management of retinitis pigmentosa

Answer 5

Referral to an ophthalmologist

Genetic counselling

Vision aids

Sunglasses to protect the retina from accelerated damage

Driving limitations and informing the DVLA

Regular follow up - assess vision and check for other potentially reversible conditions

Question 6

Investigations for retinitis pigementosa

Answer 6

Fundoscopy

Question 7

Management to slow progression of retinitis pigmentosa

Answer 7

Vitamin and antioxidant supplements

Oral acetazolamide

Topical dorzolamide

Steroid injections

Anti-VEGF injections