Friday, 15 October 2010

MRCP revision battle 30.1: Retinitis Pigmentosa

Today is the start of a 3 day neuro/opthalmology blitz, so hold on to your hats....

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...