Can Stargardt Disease Cause Blindness?

September 25, 2023

#LIVE2.0 #Review

Has a child or teenager ever complained to you about blurry vision? Do they mention dark spots when on the computer or while reading? Are they having trouble seeing colors or having difficulty recognizing faces?

If these questions sound familiar to you, then you’ve come to the right place, as we’ll be answering the ‘Why’ for you below.

Age-related eye conditions are one of the common causes of vision impairment. Macular degeneration is an eye disease found in adults over age 50. It affects the macula and causes loss of central vision.

Other symptoms include distorted shapes, blurry vision, wavy or crooked vision, loss of clear color vision, and dark or empty areas at the center of vision.

But this eye disease doesn’t just restrict itself to older adults but also children, teenagers, and young adults.

An inherited form of macular degeneration exists and is found in children and young adults. It’s called Stargardt Disease or Stargardt Macular Dystrophy (SMD).

That is the answer to all our questions earlier.

The What and Whys of Stargardt Disease

Discovered in 1901 by a German eye doctor, Karl Stargardt, this particular condition is also referred to as Juvenile Macular Degeneration.

It affects about 1 in 10,000 children in the USA, often beginning at the age of 6 to 12. It is an eye disease that is usually present at birth and begins affecting the vision before the age of 20.

It causes progressive central vision loss, affecting a person’s fine detail vision. It starts damaging the macula, a small area in the center of the retina; a specialized light-sensitive layer that lines the back of the eye. The macula handles our sharp, straight-ahead vision, something that we heavily rely on.

As the disease develops and time goes by, the symptoms get worse.

Let’s have a look at why it happens…

Stargardt is caused by a fault in a gene called ABCA4. This gene is responsible for making an important protein, which helps remove toxic by-products from the light-sensing cells in the retina, at the back of the eye.

If this protein is missing or faulty, a yellowish, fatty waste product is formed called lipofuscin – in and around the macula. This starts to affect the central vision.

A faulty ABCA4 gene causes the condition. Yet, a child only develops the disease when one faulty copy of the gene is inherited from both parents. There’s a high likelihood that both parents carry one copy of the faulty gene but do not have the disease.

If a faulty gene is inherited from only one parent, the child will be a carrier of the disease, and not have any symptoms.

How Do You Know That a Person Is Suffering from Stargardt Disease?

Patients with Juvenile Macular Degeneration may experience some or all of the following symptoms:

Blurry vision or reduced visual acuity is usually one of the earliest symptoms. This may cause difficulty in reading, distinguishing facial features, or watching TV
Difficulty distinguishing colors
Blind spots in central vision
Distortion of vision (known as metamorphopsia)
Light sensitivity (known as photophobia)

Loss of central vision tends to worsen over time as larger areas of the macula are damaged. This leads to mental exhaustion, as our central vision is crucial for most daily tasks.

Is There a Way to Know for Sure That You Have Stargardt Disease?

An optometrist can diagnose Stargardt through a dilated eye exam. A few eye drops are added to dilate (widen) the pupils and check for signs of the disease – like yellowish flecks on the macula.

Other supportive tests to diagnose or track the symptoms of Stargardt include:

Color Vision Testing – test for color vision.
Fundus Photography – takes a photo of the retina to check the macula.
Electroretinography (ERG) – retina’s responsiveness to light.
Optical Coherence Tomography (OCT) – uses light waves to create a detailed image of the retina.
Genetic Testing – to confirm the diagnosis of Stargardt.

Is Vision Loss a Big Problem?

There are approximately 49.1 million people who were blind in 2020 worldwide. There are over 221.4 million people with moderate vision impairment and 33.6 million people with severe vision impairment.

These numbers are quite alarming. You would think that only a few people would be suffering from blindness or vision impairments.

Surprisingly, approximately 547,083 children are dealing with vision problems in the USA. Around 270,761 females and 276,322 males under the age of 18 are living with vision difficulties.

Those are some big numbers considering that we are talking about children and young adults.

Can Stargardt Disease Lead To Blindness? Is All Lost?

Normally, the ABCA4 gene controls the use of Vitamin A in our bodies. Vitamin A is used to make cells in the retina and leaves some residue of fatty material. That’s when the ABCA4 gene comes in and saves the day by cleaning it up.

But that’s not how it works with Stargardt. The gene becomes inactive to the point that it doesn’t do the cleaning at all. The fatty material keeps piling up until yellowish clumps form in the macula.

To break this down and make it easier to understand, let’s examine how the effects begin to appear in stages.

This further destroys the light-sensitive cells while damaging the eye. The by-product takes over, and first impairs the central vision of the individual.

That’s one down.

Gradually, over time, the photoreceptors (the cells in the retina that respond to light) die.

That’s two down.

At this stage, the progression of Stargardt disease may lead to legal blindness or partial blindness. But not complete vision loss.

Is There a Treatment or Cure to Restore Vision Loss from Stargardt Disease?

Scientists are currently studying the biology and genetics of Stargardt disease. Recently, they have tested a new way to treat Stargardt eye disease in mice through gene therapy. This could become a new option to treat Stargardt’s eye disease.

There is no sure way to treat JMD. But, different steps can be taken to slow the progression of vision loss. These can be:

Protect your eyes from the sunlight outside or bright lights.
Don’t smoke or avoid secondhand smoke.
Take no more than the recommended amount of Vitamin A dietary supplements.

Living with vision loss and low vision from Stargardt is a task. But that doesn’t mean there is no way to fully live with it. With the research underway, there would eventually be a treatment. You can attend training programs and talk to people with similar problems. Learn from the experiences of others and lead a normal life.

Additionally, with the increase in technological advances, low vision aids have enhanced their functionalities. You can learn about how these low visual aids can help a child get through the challenges of Stargardt disease.