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Retinitis pigmentosa (RP) occurs due to genetic disorders that cause the breakdown of retina cells.
The retina is located at the back of the eye. It converts light into signals that the brains interpret to see things. If the photoreceptor cells in the retina begin to degenerate, a gradual decline in vision occurs, resulting in difficulty seeing at night and loss of peripheral vision.
Most people with retinitis pigmentosa inherit it from their parents. Several genetic conditions can cause retinitis pigmentosa. These genetic conditions affect the genes that make the proteins needed by the photoreceptor cells in the retina. If this protein isn’t present or becomes damaged, the photoreceptors will stop working and gradually die.
The first symptoms often occur between ages 10 and 40 but can be identified in younger children if it affects both eyes. The wide age range for the onset of retinitis pigmentosa makes predicting the timeline and extent of vision deterioration difficult.
The symptoms of RP mostly start with poor night vision as the cells (rods) responsible for vision in dim light gradually stop working. In most cases, it may take up to 20 minutes to adapt to low-light conditions, but RP makes it longer to adapt or the inability to adapt. You may get a night blindness diagnosis, limiting you from driving at night.
As RP progresses, the cones (the cells that respond to light) will also gradually stop working. Cones aid peripheral vision (sight from the sides of your eye). Losing the cones will cause tunnel vision. When looking straight ahead, you will struggle to see anything to the sides, below or above.
People with RP may lose some of their central vision, causing difficulty focusing on small activities like reading, but this is less common.
Retinitis pigmentosa can be passed from one or both parents to a child in three ways. Sometimes, the person may only carry the disease and not develop it.
This occurs from two copies of the mutated gene being present in both parents who are carriers. The child may be a carrier or develop the disorder, but it may not affect the child.
It occurs when one parent has a dominant gene mutation. There is a 50% chance that the child will inherit and develop retinitis pigmentosa.
If a mother is a parent with RP linked to their X-chromosome, there is a 50% chance that their son will develop RP, while the daughter has a 50% chance of being a carrier.
Informing our optometrist if you have a family history of retinitis pigmentosa is important in your diagnosis. This will allow the optometrist to look closer at your retina during your eye exam.
Sometimes, the optometrist can detect signs at the back of the eye, within the retina, indicating RP. A field test can also determine the function of peripheral vision when checking for vision defects.
If the optometrist finds any sigh of RP, they will refer you to an ophthalmologist for further testing, including assessing the electric signals your eye sends to your brain and genetic testing for RP faulty genes.
After the diagnosis, close monitoring is necessary, and the ophthalmologist will inform you of any new treatments.
RP is a genetic condition inherited from one or both parents, so it isn’t preventable. This makes regular eye checks important, and if someone in your family develops any retinal condition, ensure you inform your optician. You can also protect your eyes from sunlight.
Research is ongoing for retinitis pigmentosa treatment, its causes and how to prevent it, but there is no cure.
There is a belief that high doses of vitamin A can reduce retinal degeneration, but only a little evidence supports this. Your ophthalmologist can guide you and offer options to ease your symptoms.
After a retinitis pigmentosa diagnosis, a team of professionals and organisations are available to help manage any vision loss and its impact on your life.
This may include training on remaining mobile with limited vision, special lighting, and using
We carry out regular eye exams at Optimal Vision to help diagnose eye conditions, including retinitis pigmentosa. You can contact us on 020 3178 3725 to schedule an appointment with us for your eye exam.
Dr Mani has performed more than 20,000 ophthalmic procedures, including LASIK, LASEK, PRK, Femto Cataract, RLE, Lens ICL and Phakic IOL Surgery
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