Retinitis Pigmentosa is a general term for a range of genetic retinal conditions which results in early loss of central or peripheral vision. 

 

What is Retinitis Pigmentosa?
Retinitis pigmentosa is an inherited (genetic) retinal disease. It is a rare disease. Retinitis pigmentosa is a general term for a range of eye diseases affecting the photoreceptors called rods and cones at the back of the eye that help you see colour and contrast.

What are the symptoms?
Poor night vision
Loss of central vision
Light sensitivity
Falls
Difficulty reading

Why does it happen?
A genetic code is a set of instructions in each cell in your body that decides how it functions. Genetic material divides and replicates continuously and an error in this process can result in a change in how the cell behaves. This can be a positive or negative change and can result in the cells not working properly. Each individual receives half their genetic material from each parent. Genetic changes can also be passed on from one or both parents.

What tests will be needed?
There are many tests needed to diagnose an inherited retinal dystrophy. Dr Morjaria will ask you many questions including taking a family tree. You will require extensive tests and will need drops to dilate the eyes (so you will not be able to drive after the appointment).

OCT Scan - Optical Coherence Tomography - This looks for damage to the photoreceptors at the back of the eye. Visual field testing - This looks for a reduction in visual fields which is common in retinitis pigmentosa. Electrodiagnostics - This is a test where wires are attached around the eye and the electrical response after your eyes are stimulated in different light conditions are measured. It is a valuable tool, to look at the function of the photoreceptors in the eye. Genotyping - A blood test can be performed to look at your genetic code for a definite diagnosis. This will help us understand the exact type or retinitis pigmentosa which will allow Dr Mojaria to advise you on the likelihood and severity of any visual loss that may occur.

Fluorescein Angiogram - You may need additional tests that involve having a yellow dye injected into your hand to take pictures of the blood circulation in your eye. This will allow Dr Morjaria to assess for areas of the eye that are not getting enough oxygen or areas that need laser treatment to prevent bleeding in your eye.

Are there any treatments?
Until recently there were no treatments available. Currently there are many trials and treatments available for certain conditions. Luxturna has been the first approved gene therapy for patients with a specific genetic mutation.