Symptoms and treatment of retinitis pigmentosa

By Cristiano Antonino On Dec 7, 2022

Retinitis pigmentosa is a genetic disease, hereditary in character, usually due to alterations transmitted from one or both parents, and affecting the retina, which involves the degeneration and progressive loss of photoreceptors, such as cones and rods: the retina gradually reduces its ability to send visual information to the brain via the optic nerve

Symptoms and early signs of retinitis pigmentosa

One of the main symptoms, which can occur from an early age, is difficulty in vision in poorly lit environments (think of night blindness); not only that, patients suffering from retinitis pigmentosa also complain of difficulty in adapting vision when switching from bright to dark environments.

Another characteristic symptom of this disease is the progressive loss, or narrowing, of peripheral vision.

Gradually, tubular vision is found with difficulty in moving around in the environment, a condition that leads patients to stumble or bump easily against objects that are located to the side and, as a result, are not within the field of vision.

Also, the patient may experience a gradual inability to perceive colours correctly or report seeing bright flashes.

Main causes of retinitis pigmentosa

The retina, the thin layer of tissue that lines the back of the eye, is made up of special nerve cells capable of reacting to light: the cones and rods, which cooperate with each other to ensure correct vision and under normal conditions.

In the presence of genetic mutations, which cause the various forms of retinitis pigmentosa, the aforementioned nerve cells do not function properly, resulting in limited and degenerated vision.

What are the consequences of retinitis pigmentosa if left untreated?

As the disease progresses, in addition to the progressive loss of peripheral vision, it is possible to incur the loss of central vision: in severe cases, the patient’s vision can degenerate to the point of blindness.

Diagnosis of retinitis pigmentosa

If any of the symptoms described above are found to be present, a comprehensive examination is necessary for the prompt diagnosis of the disease.

Useful examinations in this case are

visual acuity examination
examination of the fundus oculi, i.e. the posterior part of the eyeball;
fluoroangiography;
visual field examination.

A further examination particularly suitable for the diagnosis of this pathology is the electroretinogram (ERG), which records the reaction of retinal cells to a light stimulus.

In the case of retinitis pigmentosa, a reduced or absent ERG value will occur.

How to treat retinitis pigmentosa

To date, there is no decisive cure for this disease: however, research is active and moving in different directions.

Early diagnosis makes it possible, however, to adopt a strategy to combat the disease, which can help, in most cases, to improve the quality of daily life.

The multidisciplinary approach includes: