Retinitis pigmentosa, abbreviated as RP, is an eye disorder characterized by severe impairment of vision which can even lead to blindness. It is a degenerative disorder causing damage to the retina of the eye.
Symptoms of RP most commonly appear during early childhood days. However, signs of severe vision impairment do not show up before adulthood. Signs and symptoms of RP include the following:
The following methods are used for diagnosing retinitis pigmentosa:
In addition to these tests, other diagnostic procedures such as visual acuity tests, color vision, pupil reflex response and visual filed test are also indicated for appropriate diagnosis of retinitis pigmentosa .
Loss of vision is a gradual process in individuals with retinitis pigmentosa. With treatment, the process of degeneration can be slowed down to a significant extent, in order to preserve vision for longer duration .
Heredity is the major factor for development of retinitis pigmentosa. Individuals with a family history of this degenerative eye disorder are at an increased risk of developing the same. It has been found that, about 70% of cases of RP are hereditary in nature. Mutations of several genes account for 25% cases of autosomal forms of RP .
In the US, cases of RP are reported in about 1 in 4000 individuals. Globally the incidence of RP is estimated to be about 1 in 5000. In Switzerland, incidence of RP is low with prevalence rate of 1 in 7000 individuals .
Males are at an increased risk of developing RP compared to females. The condition is usually diagnosed during young adulthood; however signs and symptoms can be evident from infancy onwards.
In the condition of retinitis pigmentosa, genetic mutations give rise dystrophy of the rods and cons of the retinal cells. Current research findings have reported histologic changes along with genetic mutations . The major pathway for development of RP is the death of photoreceptor cells that occurs due to apoptosis. The progressive vision loss results to series of events that primarily begin through shortening of the outer segments of the rods. This event is followed by loss of rod photoreceptor. This sequence of events is finally followed by death of rod photoreceptors which ultimately leads to vision loss .
So far, there are no strategies to prevent the development of retinitis pigmentosa. However, genetic counseling and associated testing can help in determination whether individuals are at risk of developing the disease.
Gradual and progressive loss of light sensitive cells of the eyes is the classical feature of the disease. Individuals affected by retinitis pigmentosa (RP), also suffer from night blindness and tunnel vision, which occurs due to degeneration of peripheral visual field. It is a progressive disease of the eye, which does not have any cure. Retinal implants have been approved by FDA for individuals aged 25 years and above .