Recognize What is Retinitis Pigmentosa

Retinitis pigmentosa (RP) is a collection of diseases of the retina that can cause sufferers to experience night blindness and vision problems that develop gradually, until finally experiencing blindness.

Retina is a thin layer in back of the eye which serves to capture light and turn it into a signal to be sent to the brain, so we can see.

On the retina, there are two types of photoreceptor cells that function to capture light, namely stem cells and cone cells. The stem cell is located on the edge of the retina, and its function is to help see in dark conditions. While cone cells function to help see in bright conditions, and most of these cells are located in the middle of the retina.

In retinitis pigmentosa, photoreceptor cell death occurs gradually, especially stem cells, caused by genetic abnormalities.

Types of Retinitis Pigmentosa

Retinitis pigmentosa is a rare condition and is estimated to only occur in 1 in 3,000–8,000 people worldwide. Although rare, retinitis pigmentosa is a major cause of disorders of the retina that can be genetically inherited.

Based on the nature of genetic inheritance, retinitis pigmentosa can be divided into several types, namely:

Autosomal recessive

In an autosomal recessive case, a pair of problematic genes is needed to produce retinitis pigmentosa. That means, a person can experience this condition only if he inherits 2 genes carrying the disease retinitis pigmentosa, namely one from the father and one from the mother.

Inbreeding is a factor that can increase the risk of autosomal inherited retinitis pigmentosa. recessive.

Autosomal dominant

Whereas in autosomal dominant, it only takes 1 gene carrying retinitis pigmentosa to cause this disease in a person. Patients with retinitis pigmentosa of this type have a 50% chance to reduce the same disease to their children ( carrier ), both male and female.

X-linked

Women have a pair of XX chromosomes, and men have a pair of XY chromosomes. In this case, the disease-carrying gene is passed down with the X sexual chromosome, either from the father or mother.

Boys who get X sexual chromosomes carrying retinitis pigmentosa will experience retinitis pigmentosa, while girls who get 1 chromosome Sexually problematic X will become a carrier.

About 15–25% of retinitis pigmentosa can be inherited autosomally dominant, while 15–25% is autosomal recessive inheritance, and 10–15 % is downgraded X-linked. Whereas about 45-55% of the rest occur spontaneously without being inherited from parents.

How much vision is lost, how old complaints begin to appear, and how quickly complaints worsen depends on the type of retinitis pigmentosa experienced.

Of the three inherited traits of retinitis pigmentosa, X-linked is the most severe case. Patients with retinitis pigmentosa of this type will usually lose vision in the middle of the visual field in their 30s.

Meanwhile, autosomal-inherited dominant retinitis pigmentosa is the mildest type of disease course. Complaints generally appear in their 40s, and patients' vision can last until their 50s to 60s.

Symptoms of Retinitis Pigmentosa

Symptoms of retinitis pigmentosa can vary. However, because most types of retinitis pigmentosa affect the stem cells that function to see in the dark, the symptoms that generally appear are:

1. Night blindness ( nyctalopia )

This symptom most often occurs early in the course of the disease and causes sufferers to crash or stumble objects in dark conditions and cannot drive at night or when it's foggy.

2. Narrowing of the visual field (tunnel vision)

Narrowing of the visual field or visual disturbances at the edge of the visual field ( tunnel vision ). Sufferers usually complain of frequent bumps in furniture or door handles, or difficulty seeing the ball when playing tennis or basketball.

3. Photopsia and photophobia

In photopsia , the sufferer sees flashes, sparkles, or flashing lights. Whereas in photophobia, sufferers easily feel dazzled when they see the light.

Most complaints due to retinitis pigmentosa appear at the age of 10-40 years. These symptoms can gradually worsen in a matter of years, they can also worsen quickly in a short period of time.

Sometimes patients with retinitis pigmentosa also have other problems in the eye, such as cataracts, swelling of the retina ( macular edema), myopia (nearsightedness), hypermetropia (farsightedness), open-angle glaucoma, or keratoconus.

Diagnosis and Treatment of Retinitis Pigmentosa

This condition requires an examination by an ophthalmologist. The ophthalmologist will perform a basic eye examination which includes visual acuity examination, color blindness test, pupillary reaction, examination of the front of the eye, visual field examination, eyeball pressure, and examination of the retina by funduscopy.

To confirm the diagnosis , the ophthalmologist will perform the following investigations:

• Electroretinography (ERG), to check the response of photoreceptor cells to light
• Optical coherence tomography (OCT), to check the condition of the retina
• Genetic tests, to determine whether there are abnormalities in genes

There is no treatment that can cure retinitis pigmentosa or restore the patient's vision lost due to this condition. Changes in diet and supplementation of vitamin A palmitate, DHA, lutein, and zeaxanthin may slow the progression of the disease.

However, the results of existing studies so far are still confusing and have not can conclude whether the above supplements are truly beneficial or not in the treatment of retinitis pigmentosa.

If there are conditions such as cataracts or swelling of the retina (macular edema), the ophthalmologist can provide treatment for each of these conditions, to help improve vision.

Retinitis pigmentosa sufferers are advised to wear sunglasses when active outside the home during the day, so that their eyes are protected from exposure to sunlight. This is because excessive exposure to light can accelerate the decline in vision.

Actually, there are ways you can do to restore the vision of patients with retinitis pigmentosa, 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.

If you experience symptoms of retinitis pigmentosa, such as night blindness, decreased vision gradually, the field of vision seems narrow, or often see flashes of light, you should consult a specialist eye doctor. If it is true that you have retinitis pigmentosa, have your child or sibling also checked by an ophthalmologist for screening for this disease.

Written by:

dr. Michael Kevin Robby Setyana

Label : Health cat_Health