Retinitis pigmentosa

What is the retina?

The retina is located at the back of the eye. It is built of a thin layer of light-sensitive cells that send the brain information about shapes, colors, patterns and movements through the optic nerve.

What is retinitis pigmentosa?

Retinitis pigmentosa (RP) is an umbrella name for genetic diseases that damage the rods and/or the cone cells of the retina and cause a decline in vision. Hereditary retinal diseases affect 1 in 3,000 people. The age of onset of the disease, the symptoms and the rate of progression vary from person to person.

The retina is made up of millions of cells called cones and rods, so named because of their shape. In the retina there are more rods than cones, and they are spread across the retina.

At the edges of the retina the concentration of rods is higher, and they allow the eye to identify what is above, below and to the sides of the object we look at. One of the key roles of the rods is to detect dim light. The cones are located in the heart of the retina, and their role is to distinguish between colors and small details.

Symptoms of retinitis pigmentosa (RP)

Most often RP will cause gradual vision loss and the symptoms will worsen over time. The early symptoms are: poor night vision, difficulty distinguishing details in dimly lit surroundings, a decline in peripheral vision and difficulty noticing changes such as an obstacle or a step, and tunnel vision – when the peripheral vision is impaired and the center of the visual field functions on its own.

How is RP diagnosed?

Diagnosing RP requires comprehensive eye examinations that monitor the retina. In addition, a visual field test, a color vision test, eye photographs and scans and a family history of ophthalmology will be required.

There are more than 300 genes that can cause hereditary retinal diseases. Genetic testing will not always identify the gene, because new genes are still being discovered. At the same time, in the research field there has been great progress in identifying the genetic cause of RP and in gene therapy.

Living with retinitis pigmentosa

Recommendations for managing a safe and normative life:

• Contact with organizations for the visually impaired and with rehabilitation organizations.
• Joining a support group.
• Pupils at school or students can receive help with their studies.
• Strong lighting.
• Using aids such as a magnifying glass.
• Rearranging the furniture so that the home is safe from obstacles.
• Closing cabinets and drawers.
• Getting help from family members or friends when outside the home.
• Avoid smoking.
• Adopting a healthy diet.

Progression of retinitis pigmentosa

Most often, it is hard to predict how RP will develop in each person. It is important to remember that because of genetic variation in the disease, different people will have different symptoms of RP and a different rate of disease development; there may also be differences within a family; as of today, it is possible to live a long and full life with RP.