MRCP revision battle 30.1: Retinitis Pigmentosa
MRCP revision battle 30.2: Oculogyric Crisis
MRCP revision battle 30.3: Myotonic Dystrophy
MRCP revision battle 30.4: Trinucleotide repeat disorders
MRCP revision battle 30.5: Huntington's Chorea
MRCP revision battle 30.6: Friedreich's ataxia
MRCP revision battle 30.7: Alzheimer's Disease
MRCP revision battle 30.1: Retinitis Pigmentosa
Retinitis pigmentosa is a type of progressive retinal dystrophy which eventually leads to blindness.
It has a very characteristic fundoscopic appearence with black mottling of the retina and a pale optic disc, as illustrated below in an image by Christian Hammel (from wiki commons):
It can be inherited in an autosomal dominant, autosomal recessive or X linked recessive fashion.
Night blindness is often the first sign.
Later comes funnel/tunnel vision.
It is associated with many conditions, including:
- Kearns Sayre (remember battle 15.1?)
- Ushers syndrome = retinitis pigmentosa with sensorineural deafness
- congenital toxoplasmosis
There is no cure for retinitis pigmentosa but progression of the disease can be slowed by vitamin A.
On to the second battle of the day...
