Retinitis pigmentosa treatment
Retinitis pigmentosa is a genetic disease of the retina, characterized by a violation of the pigment layer. Damage to the cells that perceive light and colours leads to a progressive deterioration of vision. There is no complete cure, but gene therapy, stem cell and electrical stimulation therapy prevent blindness and save eyesight.
Retinitis pigmentosa is a group of chronic and slowly progressive diseases affecting the retina and its layer. The disorder is characterized by degeneration and death of sensory (visual) cells in both eyes due to genetic mutations. Two sensory cells receive light, transform it into nerve impulses, and transmit it to the brain, rendering them as an image. Rod cells in the retina allow people to see in the dark and are responsible for the black-and-white vision and being the first to be attacked. Cone cells are responsible for colour vision during the day and are affected as a second stage.
Retinitis pigmentosa, also called retinal dystrophy, is a relatively rare disease and one of the causes of blindness (about 3 million people suffering). Men and women of all ages are equally affected by this condition. Such damage to the retina develops gradually over the decades. It can begin in childhood, adolescence or middle age. However, the earlier retinitis pigmentosa starts, the worse the prognosis.
What is the cause of retinitis pigmentosa?
Retinitis degeneration is a hereditary disorder that causes the loss of visual cells. The change in genes and DNA is passed on from parents to children. Scientists have identified more than 100 genes whose mutations cause retinitis pigmentosa. Recent studies have found that about 30% of people with dystrophy have inflammation in the eye's structures.
Also, retinal degeneration can appear along with other hereditary disorders. Examples include Usher syndrome (gradual loss of hearing and vision and balance problems) and Bardet-Biedl syndrome (retinal dystrophy, obesity and developmental delay).
What are the common symptoms?
Retinitis pigmentosa can cause symptoms in a variety of ways. However, the general signs are as follows:
- Difficulty seeing in the dark and night blindness - are usually the first complaints (because the rods die first);
- Poor visibility during the day;
- Adaptation problem of vision when lighting changes;
- Tunnel vision (it's like looking through a tube, an impossibility to see "out of the corner of your eye", the image becomes smaller and blurry);
- Visual impairment (causes problems in daily life);
- Retinitis pigmentosa increases the risk of developing cataracts.
How do doctors diagnose retinitis pigmentosa?
In addition to general ophthalmological examinations, such as visual acuity and optical fields, colour and dark vision, light-to-dark adaptation, and ophthalmoscopy (exam with a microscope and special lenses), eye doctors perform more specific tests:
- Electroretinography (ERG) evaluates the retina's function by checking the cells' response to light and dark. Ophthalmologists perform an ERG to assess the extent of the retinal damage.
- Optical coherence tomography (OCT) is a series of high-precision images of the retina using tomography.
- Genetic testing involves the study of the genetic code to identify a damaged gene. The test is essential to confirm the diagnosis and helps plan for having children. Identifying retinal dystrophy in the family is helpful for early diagnosis of this problem in other family members.
The presence of a damaged gene does not necessarily mean the presence of a disease. A mutation either shows up, or it doesn't. It depends on several reasons. First, doctors identify forms of inheritance of retinitis pigmentosa:
- In the autosomal dominant form, the chance that a child will have retinitis pigmentosa is 50% if one of the parents has it. It is the most common type, progresses slowly and has a good prognosis.
- The autosomal recessive type is the second most common but has a worse prognosis. It suggests that both parents are carriers of the retinitis pigmentosa gene but do not suffer. There is a 25% chance that a kid will develop the disease.
- The X-recessive form is sex-linked since the affected gene is located on the X chromosome (responsible for the female sex). This type is the most severe and is characterized by the most unfavourable prognosis.
Eye doctors also distinguish several types of retinitis pigmentosa:
- Pigmented inverted retinitis begins in an atypical place. Unlike the standard form, colour vision is damaged first. The main symptoms are photophobia and deterioration of daytime eyesight.
- Pigmentary retinitis without pigment is a variant of retinal cell degeneration, accompanied by pallor and narrowing of the arteries of the eye. This form is not registered on a routine examination of retinitis pigmentosa (electroretinography).
- Pigmentary pigment retinitis is characterized by multiple white patches at the back of the eye.
- Pseudopigment retinitis is a non-hereditary condition. It occurs due to inflammation, certain medications, trauma, or retinal detachment.
Treatment of retinitis pigmentosa
Treatment should begin as early as possible. It increases the chance of maintaining vision. Initially, lenses and glasses with UV protection help relieve symptoms of retinal issues. New developments in the therapy of retinitis pigmentosa include:
- Electrical stimulation therapy (EST) is carried out in the early and middle stages of dystrophy. A doctor passes a small amount of current to the eye's retina through a particular electrode. This technique helps preserve vision by increasing the activity of preserved cells.
- Gene therapy is suitable for people with a specific mutation. The drug contains a healthy version of the desired gene, which the ophthalmologist injects into the retina. As a result, the damaged gene is replaced by a healthy one, and the progression of the disease stops.
- Stem cell therapy involves introducing stem (immature) cells that transform into rods and cones and replace dead cells.
- Retinal implants are placed in people with advanced dystrophy and severe disease. There are electronic, epiretinal (above the retina) and subretinal (under the retina) implants. One type is a unique implant with a small video camera and a small wireless system that helps to see the light and even restore close vision.
What is the prognosis?
The prognosis for vision in retinitis pigmentosa is generally unfavourable since the disease tends to have persistent progression. However, less than 0.5% of patients lose sight completely. Furthermore, in approximately 25% of cases, people retain the visual acuity necessary for reading.
Can I have stem cells for retinitis pigmentosa?
Yes, this is an innovative therapy for retinitis pigmentosa. The technique consists in injecting stem cells into the area. These cells have the unique property of transforming into other types of cells, replacing and repairing damaged spots.
Can electrostimulation therapy be used for retinitis pigmentosa?
Yes. Electrical stimulation is a non-surgical method in which the ophthalmologist conducts a light current to the retina. The procedure slows down the progression of retinal dystrophy and restores part of the vision.
Why do patients with retinitis pigmentosa search for treatment abroad?
As a rule, patients are treated for retinitis pigmentosa abroad. It is because the disease is rare and requires specific treatment. Therefore, many therapy options are available only in specialized hospitals, and patients also have the opportunity to participate in clinical trials. In addition, necessary retina prosthetics are available in a limited number of clinics.
Do all ophthalmological clinics accept retinitis pigmentosa cases?
Pigmentary retinitis requires a certain range of diagnostics and a specific treatment. Unfortunately, many clinics do not have the capacity and equipment to treat retinal degeneration. Therefore, only specialized hospitals accept patients with retinitis pigmentosa, as they can ensure the stop of dystrophy and the restoration of vision.
Where is unique Ferodov restoration therapy available?
Ferodov restoration therapy is a unique vision improvement procedure available at the Fedorov Vision Restoration Clinic in Berlin. It is a world-famous hospital for the treatment of eye diseases and the restoration of vision. The success of procedures after the first course of treatment is 75%
Where can I get Retinitis pigmentosa treatment?
What are the best clinics for Retinitis pigmentosa treatment?
Who are the best doctors for Retinitis pigmentosa?
Prof. Dr. med. Mathias Maier from University Hospital rechts der Isar Munich
Prof. Dr. med. Manfred Tetz from MEOCLINIC Berlin
Prof. Dr. med. Frank Koch from Eye Centre Frankfurt am Main
Dr. med. Anton Fedorov from Fedorov Vision Restoration Clinic Berlin
Dr. med. Detlef Deiermann from Academic Hospital Bundeswehr Berlin