Everything You Need to Know About Stargardt Disease – Symptoms, Diagnosis and Treatment Options
Stargardt disease or STGD is the most common form of macular dystrophy, affecting roughly 1 in 10,000 people, both males and females, equally. The disease is named after Karl Stargardt, a German ophthalmologist who first described the case back in 1901.
Stargardt eye disease is a progressive eye disorder that causes vision loss. The signs and symptoms of Stargardt macular degeneration typically appear in late childhood to early adulthood, though there is no upper age limit for presentation; late-onset is also possible. When it comes to Stargardt eye disease prognosis, it is widely variable and depends on the age of onset and types of genes affected.
This text aims to provide valuable information about Stargardt disease symptoms, diagnosis, and possible alternative treatments such as micro acupuncture and Chinese herbal medicine.
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What is Stargardt Disease?
STGD is an inherited disorder of the macula. The macula is the functional center of the retina, an oval-shaped pigmented area near the center of the retina that is responsible for the central, high acuity vision.
The macula comprises several regions: umbo, foveola, foveal avascular zone, fovea, parafovea, and perifovea. Fovea and foveola both contain a high density of cones, which are photoreceptors with high acuity. So, the macula is responsible for:
- What you see in front of you
- The vision which is needed for the detailed activities such as reading, writing, or driving
- The ability to differentiate colors
This kind of vision is impaired if the macula is damaged. The patients will develop irreversible vision loss due to macular atrophy.
Juvenile and early-adults STGD usually occurs between 8-25 years, while late-adult onset STGD may occur later in older adults. Patients with early-onset will have worse visual outcomes than those with adult disease onset.
Stargardt Disease Cause
The cause of the disease is the mutation in the ABCA4 gene (sometimes in ELOVL4 and PROM1 genes), responsible for taking the toxic byproducts out of the photoreceptor cells. When mutated, those genes are not able to remove toxic substances properly.
It eventually leads to the accumulation of the fatty yellow pigment (lipofuscin) and the improper shuttling of Vitamin A throughout the retina, resulting in the death of the cells.
Mutations in the genes responsible for the proper function of Vitamin A account for about 95% of Stargardt’s disease. Other 5% of cases are caused by the mutations in genes responsible for the lipofuscin function.
Children inherit the STDG when both parents (carriers) have one mutated copy of the faulty gene and a normal copy. So, when 2 carriers have a child, there is a:
- 1 in 4 chance of having a child with the disease
- 1 in 2 chance of having a child who is a carrier
- 1 in 4 chance of having a completely healthy child (who neither has the disease nor is a carrier)
In most cases, it is an autosomal recessive inheritance pattern, with the parents who do not express the gene (unaffected carriers).
Stargardt Disease Symptoms
Although the symptoms of the Stargardt disease vary from person to person, the main symptom is a gradual loss of visual acuity in both eyes that cannot be corrected with glasses. In addition, every person experiences a different vision loss progression rate, with a rapid vision loss in people with earlier onset of the disease.
What does someone with Stargardt disease see?
Some additional commonly noticed symptoms include:
- Distorted or wavy shapes
- Blind spots/blank patch in the center of vision
- Sensitivity to glare
- Difficulty recognizing faces
- Poor night vision (nyctalopia)
- Impaired color vision
- Difficulty adapting to dim light
Stargardt eye disease usually does not affect the peripheral or side vision, so people with the condition can move around independently. Some patients, usually those with the later onset, can maintain good visual acuity for extended periods and perform tasks such as driving, reading, or writing.
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Stargardt Disease Diagnostics
An ophthalmologist will conduct a series of tests to confirm the Stargardt disease. Some of them may include:
- Visual Acuity Test is a visual clarity test by reading the standard eye chart at a certain distance. It checks how well you see the details of a letter or symbol. For example, a 20/20 vision means that your visual acuity at 20 feet away from an object is normal. If you have 20/40 vision, that means you need to be 20 feet away to see an object that people normally can see from 40 feet away.
- Color Testing can be beneficial in spotting the condition as people will lose color vision in the late stages of the disease.
- Visual Field Testing measures how much you can see in the corners of your eyes and can determine if you have blind spots (scotoma) in your vision and where they are.
- Fundus Photography is basically photography of the back of the eye (fundus). It can identify the presence of lipofuscin deposits.
- Electroretinography (ERG) is measuring the electrical responses of the retinal rods and cones to the light. The electrode is placed on the cornea while the light is flashed into the eye. The response is monitored and recorded.
- Optical Coherence Tomography (OCT) is ultrasound-like testing with a device that uses light waves to capture images. The retina is exposed to near-infrared light, and the experts then analyze these pictures searching for any abnormalities in retinal thickness.
- Fluorescent Angiography involves the injection of the fluorescent dye to highlight blood vessels in the eye. Then, the doctor observes the blood vessels in the back of the eye, taking and analyzing the photos ‘before and after’ the dye injection.
Treatment for Stargardt Disease
Unfortunately, Stargardt disease cure does not exist. However, some doctors advise protecting your eyes from harmful UV and blue light with protective sunglasses, thus reducing the additional eye damage.
Stopping smoking, avoiding food rich in Vitamin A, and regular exercise can help control the disease.
Stargardt disease stem cell therapy has passed Phase I and Phase II clinical trials. The results are encouraging, with significant vision improvement for some patients. Stem cells are cells that divide multiple times and can replace damaged or missing cells in different tissues. For example, if they can be turned into specialized retinal cells, they can replace cells damaged by Stargardt disease.
Gene therapy aims to replace or reconstruct defective genetic material with a healthy copy of the ABCA4 gene.
Some drugs that target the clumpy deposits of Vitamin A are in phase II clinical trials. They are developing a modified form of Vitamin A which metabolizes in the retina and results in much less waste.
Another drug that slows the toxic waste product buildup is currently also in Phase II clinical trials.
Acupuncture for Stargardt Disease
When talking about Stargardt disease treatment, we must mention natural treatment options. It includes acupuncture, micro acupuncture 48, nutrition and lifestyle counseling, auricular acupuncture, and Chinese herbs.
Acupuncture is a procedure in which thin needles are inserted through a person’s skin at specific points.
The goal of acupuncture is to restore health and balance by manipulating the flow of the “Qi,” a vital life force through invisible energy pathways called meridians. They are separate from nerve and blood vessel pathways.
Eye acupuncture focuses on promoting Qi and blood circulation around the eyes. In addition, some studies show that acupuncture acts on the macula, improving the central acuity, thus relieving the Stargardt disease symptoms.
It re-stimulates and energizes eye cells and boosts the cell’s ability to get rid of the waste products of the metabolism. It also increases the blood and nutrients supply into the eyes.
Some of the most common acupuncture points for eye diseases include:
- Sizhukong or SJ 23 is an acupoint located in the hollow area at the outer part of the eyebrow. It is shown to help treat blurred vision.
- Zanzhu or UB-2 is in the crease at the inner end of the eyebrow and is focused when the patient complains of blurred vision, pain, tearing, and eye twitching.
- Yuyao is in the middle of the eyebrow right above the pupil. It is used for treating redness, swelling, glare sensitivity, eye strain, and cloudiness of the cornea.
- Jingming, or UB-1, means “bright eyes” and is located in the inner corner of the eye. This point helps with eye problems such are night blindness, blurry vision, and glaucoma.
- Tongzilia or GB 1 is a point on the outside corner of the eye. It is thought to brighten the eyes and helps in treating light sensitivity, eye pain, and eye redness.
Micro Acupuncture 48 is a relatively new, specialized system of ophthalmic acupuncture involving 48 newly discovered acupoints located in the hands and feet only. It is a powerful form of acupuncture used for helping people with various eye conditions, including macular degeneration, Usher’s syndrome, retinitis pigmentosa, glaucoma, Stargardt disease, and many others.
Micro Acupuncture 48 depends on how well the patient responds to the treatment and the presence of the other co-existing health issues.
Chinese Herbs for Stargardt Disease
A certified Chinese herbalist will find the right mix of herbs for you, prescribed for the individual, not for the disorder, with the many antioxidant formulas available. But what is essential, it also focuses on strengthening the overall immune system.
Some of the medicinal herbs used in treating Stargardt disease include:
- In the form of teas, tinctures, and eyedrops, eyebright is a widespread herb for treating various eye diseases, with plentiful vitamins B, C, and E are crucial for intracellular eye metabolism. In addition, zinc, Selenium, and Copper also offer nutritional support to the eyes.
- Gingko Biloba is an antioxidant that improves the blood flow to the back of the eye and protects nerve cells throughout the eye.
- Green tea is rich in Vitamins C and E, Lutein, and Zeaxanthin, which guard the tissue from free radicals.
- Buddleia flower buds help alleviate light sensitivity, dim eyesight, and eye lens damage.
- Chrysanthemum flower is full of B vitamins and is beneficial for spotty vision, watery eyes, and blurred vision.
TCM (Traditional Chinese Medicine) may be the only and last hope for vision recovery and preservation when traditional medicine has little or nothing to offer.