Retinitis Pigmentosa

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.

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

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).

Optical coherence tomography (OCT) – This looks for damage to the photoreceptors at the back of the eye
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Visual field testing – This looks for a reduction in visual fields which is common in retinitis pigmentosa.
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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 Morjaria to advise you on the likelihood and severity of any visual loss that may occur.

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

Click for more info

Resources
Home - Retina UK
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Retinitis pigmentosa - About the Disease - Genetic and Rare Diseases Information Center (nih.gov)

Professional Memberships

Royal College of Ophthalmologists
British Medical Association
Medical Defence Union
UK Eye Genetics group
EuRetina
Midland Ophthalmology Society

Prizes/Awards

Ophthalmology Honours Award Honouree
West Midlands Trainee Award Nominee
Midland Ophthalmology Society Travel Award for the best Oral Presentation.
MidlandOphthalmology Society Travel Award for the best Poster Presentation.
Midlands Roper Hall Prize “Runner up” for Oral Presentation.

Professional Memberships

Prizes/Awards

Contact Rupal Morjaria.