Retinitis pigmentosa is a group of hereditary, progressive retinal degenerations or dystrophies. There are a lot of variations between the different forms of retinitis pigmentosa, but what they all have in common is progressive degeneration of light receptors, also known as the rods and cones as a part of the retina. By nature, RP is progressive degeneration of the retina (photoreceptor cells detecting light), which leads to the constriction of peripheral vision. RP is considered a rare disease: It affects roughly 1 in 4,000 men and women of all ages, races, cultures and ethnic backgrounds worldwide.
Retinitis Pigmentosa cannot be caused by injury, infection or any other external or environmental factors. It is an inherited disorder caused by pathological changes in one of more than 50 genes. Different kinds of gene mutations lead to damage of the photoreceptors. The first signs of RP can be observed by the doctor in affected children as early as age 10 or even at birth. If RP is diagnosed later in life, it is milder and may progress more slowly.
Most cases are inherited and fall into three main categories: autosomal recessive, autosomal dominant, and X-linked recessive. The main difference is how high the risk is of passing the gene to the child. Some RP cases have no previous family history. The cause of such cases cannot be explained.
Retinitis Pigmentosa can be diagnosed during routine eye examination if there are abnormal, dark pigment deposits in the retina. Also the following examinations are important: a) Typical and progressive complaints of night blindness and peripheral visual field defects; b) Visual field testing finds defects in the peripheral (side vision) with the degree of loss related to defects in relation to the damage occurring in this disease; c) Optical Coherence Tomography (OCT), which shows the loss of photoreceptors on the retina.
RP suspicion must be confirmed with:
Electroretinogram (ERG) measures the electrical activity of photoreceptor cells, which is decreased (rather than absent) if a person suffers RP.
Genetic subtyping: Definitive test for diagnosis to identify the particular defect. With help of genetic testing, a patient can learn about the progression of his particular form of the disorder.
There are many other mostly genetic retinal degenerations with their own distinct characteristics similar to RP. More known syndromes are:
1. Bardet-Biedl Syndrome. The most common are RP, extra fingers and/or toes, obesity, mental retardation and kidney disease.
2. Usher Syndrome. The combination of RP with congenital hearing deficit and problems with balance (Type II)
3. Bassen-Kornzweig Syndrome. RP combines with severe and progressive neurologic problems.
4. Choroideremia has symptoms similar to RP, including night blindness followed by loss of peripheral vision. It is characterized by degeneration of the retina and of the choroid.
5. Gyrate Atrophy. This retinal degenerative disease is associated with myopia, night blindness, reduction in peripheral vision and cataracts
6. Retinoschisis. Juvenile retinoschisis is characterized by vision loss that is usually diagnosed in childhood.
7. Refsum’s Syndrome. RP with peripheral neuropathy, cerebellar ataxia
8. Alstrom Syndrome. RP with Obesity, Deafness, Diabetes and cardiac complaints
9. NARP Synrome. RP with Neuropathy and Ataxia
10. Kearns Sayre Syndrome. RP with external ophthalmoplegia and complete heart block
A common feature of almost all forms of Retinitis Pigmentos is gradual loss of vision, but to predict the rate of loss is not possible, even for relatives. Vision sometimes appears to remain stable between annual eye examinations. The disease is incurable. However, a lot of progress in the research has been made. Nowadays, vision deterioration can be slowed down significantly, which gives hope that RP may be stabilized or prevented in the near future.
A number of drugs have been proposed for the management, but the evidence supporting their effectiveness is variable and generally limited.
Referral to a low-vision specialist is very helpful.
1. Patients should regularly visit an eye care specialist for examinations and treatment of any ocular complications such as cataracts, glaucoma and cystoid macular edema.
2. Patients should use sunglasses to protect the retina from ultraviolet light. Bright light can damage the epithelium.
3. It is important to receive genetic consulting and have all the family members (siblings and offspring) examined for evidence of RP.
4. General consulting by experienced staff is essential. It is worth mentioning that most children have enough sight to complete their education in normal schools.
5. It is legally required that the RP patient must inform the services responsible for providing a driver's license about his medical condition and do a specialized visual field test, which is carried out by specially approved optometrists.
6. The patient should register for severe sight impairment or for sight impairment.
The symptoms usually become apparent between the ages of 10 and 30, although some changes may become apparent in early childhood.
Children often have difficulty adjusting to changes in lighting or getting around in the dark (nyctalopia). People with retinitis pigmentosa often suffer from photophobia, finding bright lights uncomfortable.
Progressive loss of peripheral vision is common, although there may be loss of central vision which tends to occur later. This results in impaired sight at a variable rate.
Slow constriction of the visual fields leads to tunnel vision, which significantly lowers patients’ quality of life, and eventually total blindness.
The age of appearance of legal blindness ranges from childhood to the 40s, but symptoms may progress at different rates even in members of the same family.
Other forms of Retinitis Pigmentosa first affect central vision, which cannot be corrected with glasses or contact lenses.
Patients can experience disturbances in color perception. As the disease progresses, rod cells degeneration leads to night blindness and peripheral vision loss.
There are many practical issues visually impaired patients with Retinitis Pigmentosa are looking for. Even though RP is a progressive disease, people wonder what else can negatively affect their vision. Below, you will find answers to the most frequently asked questions regarding RP:
- Does exposure to light lead to loss of vision for people with RP?
- Can people with RP drive?
- Does pregnancy have an effect on RP?
- What is the likelihood that I will pass the RP gene on to my children?
- What should I do if my child is diagnosed with RP?
It has been reported that some women have experienced more rapid progression of retinitis pigmentosa during pregnancy, but it is problematic to study the issue thoroughly because RP is rare. If a woman is pregnant or is planning to get pregnant, she should make sure that her ophthalmologist knows about her pregnancy and her gynecologist is aware of her vision problems.
A lot of people with retinitis pigmentosa drive legally with no problems, but legal vision requirements vary from country to country. That is why an RP patient should discuss the issue with his eye care professional. There are several, main criteria that affect driving, such as visual acuity, extent of visual field loss, binocular field of vision, and diplopia (double vision).
The issue about the inheritance pattern of retinitis pigmentosa in the family should be discussed with a genetic specialist. An eye care professional specializing in hereditary retinal degenerations can help to explain how the RP gene is inherited in a particular family and what the chance is of its further inheritance.
If you child is diagnosed with retinitis pigmentosa, his or her case should be evaluated by a low-vision specialist as soon as possible. School administration and teachers should also be warned of his or her medical condition. Nowadays, there are a lot of low-vision aids that help to maximize existing vision. For example, there are special lenses that magnify central vision to expand the visual field and eliminate glare and to help with computer programs, reading the text, portable lightning devices, and adjusting a dark environment. It is also important to have regular eye examinations.
Nowadays, there are quite a number of services helping people with retinitis pigmentosa to conduct their daily business of living: from transportation to housekeeping. Such services teach how to orient and travel with a white cane or a dog guide and inform about control of illumination and contrast along with special lenses. With advancing technology, many assistive devices appear, becoming more and more sophisticated and helpful for people with RP. They include closed-circuit televisions (CCTV), reading machines, and different computer programs that allow bigger type on screen or provide braille the version of what the screen shows.
Also, there are optical devices that maximize usable vision: eyeglasses, prisms, telescopes and night vision aids, which can be a useful way to scan surroundings and find one's bearings.
My name is Kim. I was diagnosed with retinitis pigmentosa at a very early age. By sheer luck, I found Fedorov Clinic Restore Vision and received treatment there. Dr. Fedorov and Dr. Chibisova are fantastic. The care and treatment they provide is personalized for each individual patient so that maximum results can be achieved. I actually was so impressed with my results from June 2017 that I returned this May 2018 and again am thrilled with my results. I cannot thank them enough for the vision they have given back to me. I very highly recommend this clinic to anyone suffering from retinitis pigmentosa. My message is: "Don't wait." They've given me more than just vision. They've given me hope.
Fedorov Restore Vision Clinic
Prenzlauer Allee 90
10409 Berlin (Germany)
