Details on Retinitis Pigmentosa

Can the effect of the genetic disease retinitis pigmentosa be reduced?

Retinitis pigmentosa is a retinal disease where the retina is damaged resulting tunnel vision. The function of the retina is to receive light focused from the lens, convert the light into neural signals, and send these signals on to the brain. The light received is processed through the photoreceptor cells. There are 2 types of photoreceptors in the retina. Firstly, the rods; there are approximately 125 million of these and are most sensitive to light and dark changes, shape and movement. The second type of photoreceptor cells is cones which are most sensitive to one of three colours (red, blue or green). Both cones and rods are responsible for translating light into electrical impulses. (Cataract and Laser institute, 2012) Due to the essentiality of the retina any damage can cause blindness. Patients with this disease firstly have a deterioration of rod cells causing rod-cone dystrophy, which in turn causes night blindness. Patients with night blindness do not adjust well to dark and dimly lit environments. (A.D.A.M, 2012)1 in 4,000 people have this genetic disease and current predicament is that there is no current treatment for this retinal disease.

As stated above in order for the human eye to function the retina is essential. Patients with retinitis pigmentosa have a degeneration of retina function which leads to tunnel vision and will eventually at later stages be unable to see. Rods are concentrated in the outer portions of the retina and are triggered by dim light; their degeneration affects peripheral and night vision. When the more centrally located cones - responsible for color and sharp central vision - become involved, the loss is in color perception and central vision. This disease starts in one eye however will eventually effect both eyes (Doctor, 2014). This disease situates retinitis pigmentosa patients with a massive strain in their daily lives. Because it can become difficult to perceive where one is and to get from one place to another, movement can become restricted and being dependent on others will be the only method for doing daily chores such as cleaning, cooking etc. In this case due to tunnel vision and blindness it is difficult to see others. This creates apprehensiveness and awkwardness when attempting to interact socially which in return creates restricted communication from other individuals. This results in great difficulty for the blind when developing relationships therefore tend to be insecure and are restricted to expectations in their daily lives.

Retinitis pigmentosa mainly exists in males as the mutation in the DNA affects the X chromosome. Due to females having two X chromosomes there is a ‘healthy’ chromosome therefore will decrease their chances of having this mutation. Whereas in males there is only one X chromosome present