Retinitis Pigmentosa (RP) | Diagnosis & Treatment options in Turkey

What is retinitis pigmentosa?

Retinitis pigmentosa (RP) is a group of genetic eye diseases characterized by progressive degeneration of the retina. This layer of light-sensitive tissue at the back of the eye gradually loses cells, leading to vision loss.

Symptoms, often observed in childhood, first manifest as difficulty seeing in the dark (at night, in dark rooms),a phenomenon known as night blindness. Progressive loss of peripheral vision and increased sensitivity to glare are also common.

RP is caused by various genetic mutations that alter the function of retinal cells. The disease is inherited, most commonly in an autosomal recessive or dominant pattern. X-linked transmission is possible in some cases.

Retinitis pigmentosa (RP): Causes & complications

Retinitis pigmentosa (RP) is primarily a genetic disease, transmitted from generation to generation through various modes of inheritance.

Possible causes of RP

• Inherited form: In most cases, RP is bilateral and develops progressively in both eyes. An affected individual can pass the disease on to his or her offspring.
• Congenital form: Less common, RP can be present from birth. It is often stable and progresses slowly over time.
• Association with other diseases: Sometimes RP is associated with other disorders, such as Usher syndrome, which causes hearing loss and visual impairment.

Complications of RP

The progression of RP leads to progressive vision loss, manifested by :

• Night blindness: difficulty seeing in the dark or in dim light.
• Visual field constriction: Loss of peripheral vision, giving the impression of looking through a tunnel.
• Loss of visual acuity: Decreased sharpness of vision.
• Cataract: Opacity of the crystalline lens, surgically treated by a procedure called phacoemulsification.
• Irreversible vison loss (total blindness): In advanced cases, RP can lead to total vision loss.

Although RP is a genetic disease, medical research in Turkey is exploring new therapeutic avenues to slow its progression.

Diagnosis of retinitis pigmentosa in Turkey

Suspicion of retinitis pigmentosa requires a thorough consultation with an ophthalmologist. Only a specialist can make an accurate diagnosis and suggest appropriate follow-up care.

Important tests for a reliable diagnosis of retinitis pigmentosa include

• Fundoscopic examination: This exam visualizes the retina and detects abnormalities characteristic of retinitis pigmentosa, such as pigment deposits.
• Electroretinogram (ERG): This non-invasive test measures the electrical activity of the retina in response to light. It is essential for assessing the function of photoreceptor cells, especially the rods, which are the first cells to be affected by the disease.
• Visual field: This test maps the area of peripheral and central vision and reveals any vision loss characteristic of retinitis pigmentosa.
• Optical coherence tomography (OCT): This imaging test analyzes the thickness and structure of different layers of the retina, providing valuable information about the progression of the disease.

Our partner eye clinics in Turkey have state-of-the-art equipment and highly qualified medical teams. Thanks to personalized care, you'll benefit from accurate diagnosis and personalized follow-up of retinal diseases.

Treatment options for retinitis pigmentosa in Turkey

Retinitis pigmentosa, a degenerative disease of the retina, has long resisted traditional treatments. While many approaches have been explored, such as:

• Vasodilatation: to improve blood flow to the retina.
• Anticoagulants: to prevent the formation of blood clots.
• Hyperbaric oxygen therapy: to increase the amount of oxygen in the tissues.
• Ozone therapy, vitamins, minerals, and hormones: to support cellular functions.
• Complementary therapies: such as a technique of acupuncture, ultrasound, and electrical stimulation.

Unfortunately, none of these have been able to significantly halt the progression of the disease.

Retinal prostheses

For people who have lost their sight due to retinitis pigmentosa, retinal prostheses offer an interesting alternative. These implants stimulate the remaining nerve cells in the retina, providing some perception of light and shape.

Thanks to the expertise of ophthalmic surgeons in Turkey, many patients have been able to regain a better quality of life, especially by moving around more easily and recognizing objects in their environment.

Gene therapy

Gene therapy in Turkey represents one of the most promising advances in the treatment of retinitis pigmentosa. Using CRISPR technology, researchers hope to correct the genetic mutations that cause the disease.

By introducing a healthy gene into the retinal cells, this technique replaces the defective gene at the origin of the disease, leading to the restoration of optimal visual function.