Retinitis pigmentosa, refers to a group of inherited diseases causing retinal degeneration. The retina is a thin piece of tissue lining the back of the eye. Rod and cone photoreceptors in the retina convert light into electrical signals that the brain interprets as vision. People with RP experience a gradual decline in their vision, because photoreceptors degenerate
Inheritance
An estimated 100,000 people in the U.S. have RP, mainly caused by mutations (variations) in a single gene inherited from one or both parents. The mutated gene gives the wrong instructions to photoreceptor cells, telling them to make an incorrect protein or too little or too much protein. (Cells need the proper amount of particular proteins in order to function properly.) Mutations in dozens of genes have been linked to RP.
Autosomal recessive inheritance
Caused as a result of two copies of the mutated gene being present since both parents are carriers. It may be that the child is a carrier or develops the disorder. However, it can also not affect the child at all.
Autosomal dominant inheritance
Caused as a result of one parent having a dominant gene mutation. There is a 1 in 2 chance that the child will inherit and then develop retinitis pigmentosa.
X-linked inheritance
If the mother is the parent with RP linked to their X chromosome, there is a 1 in 2 chance of their son developing RP and the same odds of their daughter being carrier.
Diagnosis
One of the key points to remember with an RP diagnosis is to ensure that the optometrist knows if there is a history of it in there family. This will allow the optometrist to take a closer look at the retina during an eye test.
In some cases, the optometrist can detect specific signs at the back of the eye, within the retina, which indicate RP. A field test can also assess the function of the peripheral retina, to check for defects in vision. If the optometrist detects any signs of retinitis pigmentosa, they will refer the patient to an ophthalmologist – an eye doctor - who will perform further tests including assessing the electrical signals sent by the eye to the brain and a genetic test for the retinitis pigmentosa faulty gene.
Once diagnosed, a person with RP can be closely monitored and be made aware of any new treatments.
Symptoms depend on whether rods or cones are initially involved. In most forms of RP, rods are affected first. Because rods are concentrated in the outer portions of the retina and are activated by dim light, their degeneration affects peripheral and night vision. Vision becomes more constricted over time. If and when the disease progresses and cones become affected, visual acuity, color perception, and central vision are diminished.
Night blindness is one of the earliest and most frequent symptoms of RP. People with mainly cone degeneration, however, first experience decreased central vision and reduced ability to discriminate colors and perceive details.
RP is typically diagnosed in children, adolescents and young adults. It is a progressive disorder. The rate of progression and degree of visual loss varies from person to person. Many people with RP are legally blind by age 40, with a central visual field of less than 20 degrees in diameter.
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