Hi, bestfriend. . Today, I will discuss what it is, causes, types, symptoms, examination, treatment, and nutritional intake for people with retinitis pigmentosa.
Table of contents
- What is Retinitis Pigmentosa?
- Causes of Retinitis Pigmentosa
- Types of Retinitis Pigmentosa
- Symptoms of Retinitis Pigmentosa
- Retinitis Pigmentosa Test
- Retinitis Pigmentosa Treatment
- Nutritional Intake for Patients with Retinitis Pigmentosa
- Advice for Patients with Retinitis Pigmentosa
Retinitis pigmentosa is a rare condition and is estimated to affect only 1 in 3,000–8,000 people worldwide. Although rare, retinitis pigmentosa is a major cause of genetically inherited retinal disorders.
What is Retinitis Pigmentosa?
The following is an explanation of 'What is Retinitis Pigmentosa'.
Retinitis Pigmentosa is a group of inherited disorders characterized by progressive loss of peripheral vision and difficulty seeing at night (nyctalopia) that can progress to central vision loss.
Retinitis pigmentosa (RP) can also be interpreted as a disease of the retina that can cause sufferers to experience night blindness and vision problems that develop gradually, eventually experiencing blindness. In retinitis pigmentosa, photoreceptor cell death occurs gradually, especially stem cells (which function to see when it's dark or at night), which is caused by genetic disorders.
What is the retina and what does it do?
This is an explanation of 'What is the Retina and What Does it Do'.
The retina is a thin layer at the back of the eye which functions to capture light and convert it into a signal to send to the brain, so that we can see an object or object.
In the retina, there are two types of photoreceptor cells that function to capture light, namely rod cells and cone cells. Stem cells are located at the edges of the retina, and their function is to aid in seeing in dark conditions. Meanwhile, cone cells function to help see in bright conditions, and most of these cells are located in the center of the retina.
Causes of Retinitis Pigmentosa
The cause of retinitis pigmentosa is not certain. But it's suspected that mutations in genes that control stem cells could trigger the disorder. Sometimes, the cone cells are also damaged. This disorder is inherited and usually passes from parent to child. This disease is not contagious.
Types of Retinitis Pigmentosa
Based on the inherited nature of genetic disorders, retinitis pigmentosa can be divided into several types, namely:
- Autosomal recessive
- Autosomal dominant
- X-linked
In this type of retinitis pigmentosa (autosomal recessive), it takes a pair of problematic genes to bring up retinitis pigmentosa. That means, a person can experience this condition only if he inherits two genes carrying retinitis pigmentosa, one from the father and one from the mother.
Inbreeding is a factor that can increase the risk of autosomal recessive inherited retinitis pigmentosa.
Whereas in this type of retinitis pigmentosa (autosomal dominant), only 1 retinitis pigmentosa carrier gene is needed to bring up this disease in a person. Patients with this type of retinitis pigmentosa have a 50% chance of passing the same disease on to their children (carriers), both boys and girls.
Females have a pair of XX chromosomes, and males have a pair of XY chromosomes. In this case, the gene for the disease is inherited along with the X sexual chromosome from either the father or the mother.
Boys who get the X sexual chromosome carrying retinitis pigmentosa will develop retinitis pigmentosa. Meanwhile, girls who get 1 problematic X sexual chromosome will become carriers.
About 15–25% of retinitis pigmentosa can be inherited in an autosomal dominant manner, while 15–25% are inherited in an autosomal recessive manner, and 10–15% are X-linked inherited. Meanwhile, about 45-55% of the rest occur spontaneously without being passed on from parents.
How much vision is lost, the age at which complaints begin to appear, and how quickly the complaints worsen will depend on the type of retinitis pigmentosa you are experiencing.
Of the three types of retinitis pigmentosa above, X-linked is the most serious case. Patients with this type of retinitis pigmentosa will usually lose sight in the middle of the visual field in their 30s. Meanwhile, retinitis pigmentosa that is inherited by autosomal dominant is the mildest type in the course of the disease. Complaints generally appear in the 40s, and the patient's vision can last until the age of 50s to 60s.
Symptoms of Retinitis Pigmentosa
The symptoms of retinitis pigmentosa can vary. However, because most types of retinitis pigmentosa affect stem cells that function to see in the dark, the most common symptoms of retinitis pigmentosa are:
- Night blindness (nyctalopia)
- Narrowing of the field of view (tunnel vision)
- Photopsia and photophobia
These symptoms of retinitis pigmentosa occur most often early in the course of the disease. This symptom of retinitis pigmentosa causes sufferers to often bump or trip over objects in dark conditions, and they cannot drive at night or when it's foggy.
Narrowing of the field of view is a visual disturbance at the edge of the field of view (tunnel vision). These symptoms of retinitis pigmentosa usually cause sufferers to complain of frequently bumping into furniture or doorknobs, or having difficulty seeing the ball while playing tennis or basketball.
In photopsia, sufferers see flashes, sparkles, or flashes of light. Whereas in photophobia, sufferers easily feel dazzled when they see light.
Most complaints due to retinitis pigmentosa appear at the age of 10–40 years. The symptoms of retinitis pigmentosa can worsen gradually over a period of years, but they can worsen quickly over a short period of time. Sometimes people with retinitis pigmentosa also have other eye problems, such as: cataracts, swelling of the retina (macular edema), myopia (nearsightedness), hypermetropia (farsightedness), open-angle glaucoma, or keratoconus.
Retinitis Pigmentosa Test
As a progressive disease that will get worse over time, early examination is very necessary, if you experience the symptoms of retinitis pigmentosa that have been described above. Here are some tests that an ophthalmologist can perform to determine the right diagnosis and treatment.
- Fundoscopy
- Electroretinogram
- Dark Adaptometry
- Perimetry
- Genetic Examination
First, the examination for retinitis pigmentosa, is to use funduscopy.
Examination of the retina of the eye using special equipment.
Second, the examination for retinitis pigmentosa, is to use an electroretinogram.
The examination is carried out by detecting the electric waves that are captured by rod cells and cone cells, when given a light stimulus. If retinitis pigmentosa is detected, it will be seen from a decrease in wave amplitude.
Third, the examination for retinitis pigmentosa, is to use dark adaptometry.
A tool used to detect the ability of stem cells to adapt in the dark.
Fourth, the examination for retinitis pigmentosa, is to use perimetry.
Test to see if there is visual disturbance on the side of the eye (tunnel vision).
In this retinitis pigmentosa examination, a gene examination will be carried out, whether there are mutations or changes that allow retinitis pigmentosa to occur.
Retinitis Pigmentosa Treatment
There is no treatment that can cure retinitis pigmentosa or restore the vision of sufferers that have been lost due to this condition.
Dietary changes and supplementation with Vitamin A palmitate, DHA, Lutein, and Zeaxanthin may slow the progression of this disease. However, the results of existing studies are still confusing and have not been able to conclude whether these supplements can be useful in the treatment of retinitis pigmentosa.
RP sufferers are advised not to often be exposed to too strong a light because it can cause worsening retinal damage. The use of sunglasses that can absorb UV rays is recommended for people with RP if they want to leave the room.
In fact, there are ways that can be done to restore the vision of people with retinitis pigmentosa, namely by implanting a device that can convert light into signals that can be sent to the brain. However, this tool is not yet available in Indonesia.
Nutritional Intake for Patients with Retinitis Pigmentosa
The following is the recommended nutritional intake for people with retinitis pigmentosa.
Medical experts recommend a balanced diet with adequate green leafy vegetables. However, until now there has been no evidence that certain foods can cause improvement or deterioration.
Consumption of anti-oxidants such as vitamin A, vitamin E, and vitamin C is also said to help reduce the progression of retinitis pigmentosa. Consumption of anti-oxidants is required in high doses, and should be consumed under a doctor's supervision. Provision of vitamin A can reach 15,000-25,000 IU per day, vitamin E 800 IU per day, and vitamin C 1000 mg / day.
Advice for Patients with Retinitis Pigmentosa
Here are some suggestions for people with retinitis pigmentosa.
If you experience symptoms of retinitis pigmentosa, such as: night blindness, gradual decrease in vision, narrowing of the visual field, or often see flashes of light, you should check with an ophthalmologist. If it is true that you have retinitis pigmentosa, also check your child or sibling to an eye doctor to screen for this disease.
Retinitis Pigmentosa (RP) sufferers should do routine eye examinations every year to monitor their field of view. With routine examinations, both the doctor and the patient can find out whether the disease progresses quickly or slowly.
If the eye is already blind, it is highly recommended to have further consultation with an ophthalmologist so that further physical examination can be carried out.
This is an explanation of what it is, causes, types, symptoms, examination, treatment, and nutritional intake for people with retinitis pigmentosa.
May be useful. .
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