What is the retinitis pigmentosa?
The Retinite Pigmentosa (RP) is characterized by a degenerative process of the photoreceptors (cones and rods) that begins from birth.
The patient, who lacks rods, suffers from the visual difficulties in the dark and especially in the transition from luminous to dark environments. An eye examination is used to diagnose the presence of pigmentations at the level of the ocular bottom. The diagnosis is usually confirmed with specific instrumental examinations for the evaluation of the function of the rods and in particular with the electroretinogram (ERG) that records the electrical activity of the retina. The visual field test evaluates the extent of visual capacity in space and the optical coherence tomography OCT highlights the individual layers of the retina, through which the deficiencies of the rods can be highlighted.
Transmission is hereditary in about 50% of patients with predominantly autosomal recessive or dominant transmission. About 10% of patients have a transmission on the X chromosome.
What are the causes of RP?
The causes of retinitis pigmentosa (RP) can be:
Heredity: retinitis pigmentosa is a hereditary disease that involves both eyes. If it starts in one eye, the other eye usually develops the same condition over a number of years. The genetic factor seems to be predominant and retinitis pigmentosa is inherited in a variety of ways. Congenital causes: retinitis pigmentosa is usually diagnosed during adolescence, but may also be present at birth. The second congenital type is usually quite stable and not progressive.
Systemic diseases: retinitis pigmentosa is sometimes associated with other systemic diseases such as Usher syndrome. In these cases, hearing loss is usually diagnosed before eye changes.
Complications of retinitis pigmentosa may be due to:
Cataract: the cataract removal can be performed in Turkey and Istanbul for patients who respond well to this removal and implantation of an intraocular lens.
Blindness due to loss of retinal function.
What are the symptoms of retinitis pigmentosa?
The first symptoms of the reduced function of the photoreceptors are evidenced with a difficulty of adaptation to the dark, the patient in passing from a more luminous environment (example from the street) to one less luminous (a shop). This is often associated with a reduction in the peripheral field of view that causes it to bump against obstacles laterally.
Patients find it difficult to identify the people placed on the side. In a later stage, dazzle may appear and a reduction of the sight that can even reach the blindness can arise in an advanced stage.
How is it diagnosed?
When there is a suspicion that the visual difficulties are due to a case of retinitis pigmentosa, it is important to contact the ophthalmologist. Only the specialist is able to carry out all the necessary examinations to accurately identify the pathology.
The fundoscopic examination
Its purpose is to evaluate the retinal morphology and to investigate the presence of characteristic pigment spots on the retinal surface. Some forms of retinitis are not characterized by the presence of spots on the bottom of the eye.
The visual field test
The best eye doctors will be able to evaluate the retinal sensitivity to a luminous stimulus in the various areas of the retina thanks to this examination. It is useful to have an objective documentation of the difficulties perceived by the patient.
What are the possible treatments in Turkey and Istanbul?
Numerous therapeutic attempts have been made to treat retinitis pigmentosa, including medical means such administration of vasodilators, anticoagulants, hyperbaric oxygen therapy, ozone therapy, vitamins, minerals, hormones, acupuncture, ultrasound, and electrical stimulation. All the techniques aim at improving blood supply and retinal metabolism, but none was found to be of substantial effectiveness.
For patients who have become blind due to retinitis pigmentosa, the epiretinal prosthesis of Turquie santé represents the only effective response to improve their quality of life. With Turquie santé, the patient could regain a good degree of autonomy through visualizing obstacles and objects both inside and outside.
The new CRISPR technology that is considered the latest treatment can be used in the future to treat retinitis pigmentosa.
The technique is able to repair the genetic mutation that is responsible for the disease. It has a great potential but is not 100% accurate. It must be verified that stem cells differ correctly in retinal cells and that CRISPR does not cause unwanted genetic changes in cells.