Retinitis pigmentosa, hereditary cause of blindness

Retinitis pigmentosa is a disease of the retina in which the outermost layers of the retina, where the photoreceptors are located, are damaged. Dr. Figueroa, retinologist, medical director of Vissum Santa Hortensia and a member of Top Doctors, answers all the doubts about this eye disease.

This ophthalmological disease affects 1 to 5 out of 10,000 people in Europe according to Orphanet. The Association of People Affected by Retinitis Pigmentosa in the Basque Country quantifies that there are currently around 25,000 cases in Spain.

Causes of Retinitis Pigmentosa

Retinitis pigmentosa is hereditary, although sometimes there may be sporadic cases with no family history, but it is not the most common. There are different types of inheritance of this disease and each of them presents a different degree of evolution: autosomal recessive or X-linked inheritance is the most severe form, while autosomal dominant inheritance is the most benign form of the disease.

The genetic study in patients with Retinitis Pigmentosa allows to know the type of inheritance and therefore the prognosis of vision for the patient.

Symptoms of Retinitis Pigmentosa

The most frequent symptoms are loss of visual acuity and concentric reduction of the visual field. These symptoms usually begin with night blindness, i.e. a slow adaptation of vision in the dark. Visual field is progressively lost, until it is reduced to tunnel vision.

These symptoms are due to retinal damage and cataracts, which are a frequent finding in this disease. In some cases retinal degeneration is accompanied by inflammation of the macula.

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Preventing Retinitis Pigmentosa progression

The signs in the retina that allow us to diagnose Retinitis Pigmentosa are very typical, so it is very important a complete examination of the retina in relatives of patients affected by this disease to confirm or rule out the diagnosis. Sometimes Retinitis Pigmentosa is diagnosed in a routine examination without other risk factors.

Treatment of Retinitis Pigmentosa

Treatment options are currently limited to those patients with very severe vision loss, who can only perceive light.

The use of special glasses, which collect images that are sent to a chip placed in the retina through surgery, is a treatment that allows for improved vision in these patients.