Retinitis Pigmentosa

“A genetic disease which causes progressive and irreversible damage to the retina, resulting in blindness”

Aetiology

• Mostly inherited, with variable inheritance patterns

Pathophysiology

• Degeneration of rods and cones
• Displacement of melanin-containing cells from deeper layers to superficial retinal layers

Clinical Presentation

• Often starts in childhood
• Night-time blindness
• Reduced peripheral vision
• Leads to blindness between adolescence and middle age

Investigations

• Ophthalmoscopy
• Genetic testing

Management

• Irreversible, can be delayed with use of vitamin A