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Retino Pigmentosa

One of the most remarkable features of humans is the ability to view the world around them. Not only are our eyes windows to the world, but they are responsible for our sense of perception and sight. With complex and captivating anatomy, it gives us the ability to see.

The external parts, like eyelids & lashes, protect and lubricate, whereas the inner structure, such as the cornea and retina, aid in focusing the light by adjusting incoming light with the help of the pupil. However, sometimes, this light-sensitive thin layer of tissue, the retina, has to suffer from issues such as Retino Pigmentosa or Retinitis Pigmentosa, also known as hereditary/ inherited retinal dystrophy (IRD).

What Is Retinitis Pigmentosa (RP)?

It is a group of inherited eye diseases. Here, patients experience a gradual vision loss. It affects 1 in 5,000 people worldwide. In India, especially in rural south India, it is 24.7 per million people. RP is progressive but slow. Most of the people suffering from it never experience complete vision loss. Yet, due to the limitation of peripheral vision, they are considered legally blind.

Types

Pigmentosa eye disease has several types listed below. Have a look:

Atypical RP

This is a special type of retinitis pigmentosa where some features are absent in the eyes. These features include pigments, arteriolar attenuation (loss of blood vessels responsible for microcirculation), and optical disc pallor (abnormal coloration of an optical disc, i.e., pale yellow colour).

RP 11

This is another subtype of retinitis pigmentosa caused by a mutation of genes in the PRPF31 gene. People can start to experience symptoms in early childhood. This subtype affects 1 in 10 patients on RP.

RP 4

Here, the abnormality in the retina is recognized by the deposit of pigments. Generally, it is followed by nyctalopia (night blindness due to malfunctioning of rod cells) and loss of mid-peripheral vision.

Causes

It is caused by changes in genes that control retina cells. Here, cells break down slowly, leading to vision loss. It is usually passed down genetically from parents to kids. Medically, a mutation in more than 60 genes can lead to retinitis pigmentosa.

Retinitis pigmentosa affects light-sensitive tissue and retina in the back of an eye. Here, light-sensitive tissues called rods (photoreceptor cells that perceive size, shape & brightness) and cones (photoreceptor cells that provide colour vision & colour sensitivity) break down slowly with time.

As the disease progresses, the vision loss becomes more & more noticeable.

Signs & Symptoms

  • Night vision loss (can start with problems in seeing in dim light)
  • Tunnel vision (it generally occurs at the later stage of the disease)
  • Peripheral vision loss
  • Bright light sensitivity
  • Colour vision loss

Diagnosis

There is not one but many methods via which retinitis pigmentosa is diagnosed. Let’s see them one by one.

1. The most common diagnosis involves using a dilating liquid that widens the pupil. Here, peripheral vision is also checked.

2. An ophthalmologist (doctor specializing in eye treatments) may check how the retina responds to light. This process is known as electroretinography.

3. A complete picture of the retina with fine details is taken using light waves to understand the severity of the condition. This process is called optical coherence tomography. The method of taking pictures using blue light is called fundus auto-fluorescence imaging.

4. Last but not least, there is genetic testing to know more about the type of retinitis pigmentosa and its symptoms.

Is It Curable?

Unfortunately, it is a disease people are born with. To date, there is no cure, but ongoing research may make this type of disease treatable in the future. But, even with no cure, certain aids can help patients, such as:

  • Low vision aids (LVAs) are devices that can help people with poor vision to see & read more clearly.
  • Rehabilitation programs can help people with retinitis pigmentosa to make the most of their vision. Here, people learn how to cope with their vision loss.
  • Supplements such as vitamin A< can help slow vision loss from common RPs.
  • Your family can undergo screening to know if anyone suffers from the disease. This will help you understand your chances of having one.

The bright side, though, is that it is progressive and slow. So, most people never suffer complete vision loss. Kindly do not take supplements or do self-diagnosis on your own. It is always best to consult a doctor for advice.

Treatment | Surgeries

Since the disease has no cure, several methods are developed to slow down or treat the RP. Some of them are listed below for your reference.

Retinal Prosthesis

Here, an artificial retina is implanted in the patient’s eyes. It can help patients with severe vision loss or those at the advanced stage of this disease.

Optogenetic Therapies

This one is under trial. It may help with pigmentosa eye disease and with some other eye-related diseases.

Gene Therapy

For retinitis pigmentosa caused by genetic defects, especially RPE65, Luxturna is available that delivers a healthy copy of the RPE65 gene directly to the retina.

Stem Cell Therapy

It involves using stem cells to repair damaged retina cells, which may restore lost vision and improve the overall function of the retina. Stem cells can be obtained from the patient’s body or a donor.

Using UV Sunglasses

Wearing sunglasses can help delay the symptoms of pigmentosa eye disease.

In some cases, diet changes can also help reduce vision loss.

Can Retino Pigmentosa Lead To Complete Vision Loss?

In some cases, yes. However, the loss of eyesight is gradual and increases with time. Most people suffering from disease never lose complete vision, yet due to the inability to see anything in their peripherals, they might be considered legally blind.

Some patients may get completely blind by their 30s, while others can retain practical vision even up to their 80s. The rate of vision loss varies from person to person, even within a family.

Benefits Of Physiotherapy For Retino Pigmentosa Patients at Dhanwala

Naturo & Physio Care

Apart from painful surgeries, other methods can be implemented to treat pigmentosa eye disease. It primarily involves a holistic and natural treatment plan. Let’s have a quick summarized look at them.

Vision Therapy

Various vision-related therapies can be implemented to reduce the loss of vision.

Electro-Acupuncture

In this process, a small electric current is passed between a pair of acupuncture needles. It helps release the protective protein in the retinas that can slow down vision loss.

Exercises

A range of exercises and techniques aim to maintain and improve vision, mobility, balance, gait training, etc. A physiotherapist can teach you eccentric viewing (which teaches you how to use your peripheral vision for daily activities).

Activities such as Tai Chi can help patients to improve their balance and strength. This will allow individuals to become independent and reduce the risk of injuries (from falling).

Proper Food Supplements

Some supplements, such as Vitamin A, Omega 3, Vitamin E, Amino acid, Zinc, Lutein, etc., can be prescribed to patients to help aid their vision. Did You Know that all these supplements are found in Indian clarified butter, also known as Ghee? However, it has also been reported to be high in saturated fat.

Note: You must consult a doctor before taking any supplement. It may have an adverse effect on your overall health.

Suffering from pigmentosa eye disease can be challenging for both individuals affected by it and their families. It can take an emotional and physical toll on a person. The fear of losing the magnificent ability of sight can cause severe anxiety or depression. It can be extremely challenging to adapt oneself to a changing vision.

It is essential for retinitis pigmentosa patients to have access to resources and help that they can get. That’s why Dr. Mrs. Surabhi Sachin Dhanwala (PT) & her team at Dhanwala Naturo & Physio Care have curated proper management and support for individuals suffering from pigmentosa eye disease to lead fulfilling lives and work towards their goals.

Being one of the crucial and delicate senses, our eyes require proper care to function. It is essential to give importance to the health of our eyes as they are complex structures that grant us the gift of vision. So, a timely check is crucial for everyone.

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