Retinitis pigmentosa is a genetic disorder which is mainly due to a mutation which cause damage to the photoreceptor cells that is the rods and cones, leading to progressive vision loss.
Genetics-
Autosomal recessive -20 to 25% cases
Autosomal dominant -15 to 20% cases
X linked- 15 to 20% cases
In X linked cases, the males are primarily affected, while the females are unaffected carriers.
Symptoms-
- Night blindness
- Tunnel vision- decreased vision in periphery
- Sensitivity to light and glare.
- Colour vision impairment
Types:
A typical RP- variations from the typical presentation
Sectoral RP- pigmentary changes localised to a specific sector or segment
Pericentral RP- changes localised to centre of retina
Inverse RP- central vision affected first
Uni lateral RP- pigmentary changes affected in one eye only
Diagnosis- Dilated retinal examination & relevant investigations
Management- Low visual aids & symptom management
MBH/DB