Stargardt’s Disease: Navigating the Challenges of Juvenile Macular Degeneration

Written by Carolyn Smarszcz, BSN, RN

Updated on December 15, 2023

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• Stargardt macular degeneration causes damage to light-sensing cells in the inner eye.
• Promising new therapies are emerging to preserve sight capabilities or restore vision. 
• A variety of accommodations are available to help patients with Stargardt disease accomplish everyday tasks.

Childhood chronic illness is a real concern for many parents. Particularly when the condition involves one of the main physical senses, like sight, you may feel overwhelmed with learning how to care for your child developmentally while also managing their medical needs.

Stargardt’s disease is one such condition. When your child’s visual abilities decrease slowly, you may wonder how to navigate the challenges involved with juvenile macular degeneration and possible treatment options.

Fortunately, many adaptive technologies are available to help patients as the disease progresses. Read on to learn more about this rare condition and what it means for a child you love.

Understanding Stargardt’s Disease

Stargardt’s disease, also known as Stargardt macular degeneration or Stargardt macular dystrophy, is part of a family of eye disorders marked by damage to a part of the retina called the macula. This damage results in a loss of central vision and lowered visual acuity (how sharp¹1. Porter, D.. Visual Acuity. American Academy of Ophthalmology. 2022. https://www.aao.org/eye-health/tips-prevention/visual-acuity-3 a person’s vision is at a given distance).

Historical Background

Macular degeneration was first described by physicians around 1850. At that time, it was thought to be an age-related disorder marked by progressive vision loss.

In the early 1900s, a German ophthalmologist named Karl Stargardt reported macular atrophy (degeneration) in a patient much younger than the age where macular degeneration was typically diagnosed. 

With time and further research, juvenile macular degeneration became known as Stargardt disease.

How Common is Stargardt’s Disease?

Stargardt’s disease²2. Stargardt disease. Orpha Net. 2003. https://www.orpha.net/data/patho/GB/uk-Stargardt.pdf is considered the most commonly inherited disease of the macula.

It’s estimated that Stargardt’s disease occurs at a rate of 1 in 8,000 to 1 in 10,000 people and that men and women are equally likely to develop the condition. 

Causes

To understand how people with Stargardt’s disease develop this rare condition, it’s helpful to review the science and how it impacts visual acuity.

Stargardt macular dystrophy is a genetic eye disorder (specifically, an autosomal recessive condition). In simpler terms, when parents carry a copy of the normal gene and a copy of the mutated (faulty) gene, their children then have a 25% risk of developing the inherited condition.

According to experts at the Foundation Fighting Blindness, the faulty gene causing Stargardt’s disease has been identified as the ABCA4 gene³3. What is Stargardt Disease?. Foundation Fighting Blindness. https://www.fightingblindness.org/diseases/stargardt-disease#:~:text=It%20is%20inherited%20when%20both,one%20mutated%20copy%20of%20ABCA4.. 

In 2000, a study⁴4. Maugeri, A., Klevering, B. J., Rohrschneider, K., Blankenagel, A., Brunner, H. G., Deutman, A. F., Hoyng, C. B., & Cremers, F. P. M.. Mutations in the ABCA4 (ABCR) gene are the major cause of autosomal recessive cone-rod dystrophy. The American Journal of Human Genetics. 2000;67(4), 960–966. https://doi.org/10.1086/303079 published in The American Journal of Human Genetics found that “mutations in the ABCA4 gene could be the most frequent cause of inherited retinal dystrophy in humans.”   

Retinal Degeneration and Impact on Vision

The main purpose of the retina is to sense light waves and send those electrical signals to the part of the brain responsible for vision. The macula⁵5. Macula. American Academy of Ophthalmology. 2017. https://www.aao.org/eye-health/anatomy/macula-6 (located in the center of the retina) is needed to see details in front of an individual clearly.

In Stargardt’s macular dystrophy, yellowish flecks of fatty material (lipofuscin) build up on the macula, which causes central vision loss, making it difficult to distinguish details of objects directly in an affected person’s visual field. 

The fatty material also damages the light-sensing (photoreceptor) cells in the retina, which leads to trouble adjusting from bright sunlight to difficulty seeing in dim light (delayed dark adaptation).

Side (peripheral vision) may also decrease in Stargardt macular degeneration.

Symptoms 

Because Stargardt’s disease causes damage to retinal cells, many of the symptoms surround the loss of sharp central vision.

Experts at the National Eye Institute⁶6. U.S. Department of Health and Human Services. Stargardt Disease. National Eye Institute. 2021. https://www.nei.nih.gov/learn-about-eye-health/eye-conditions-and-diseases/stargardt-disease report that young people in the early stages of Stargardt disease may show the following symptoms:

• Slow loss of central vision in both eyes (most common symptom)
• Gray, black, or hazy spots in the center of the field of vision
• Sensitivity to bright light
• Needing more time for eyes to adjust between light and dark places
• Changes in color perception (color blindness)

Researchers at the American Macular Degeneration Foundation⁷7. Stargardt Disease Defined. American Macular Degeneration Foundation. 2016. https://www.macular.org/about-macular-degeneration/what-is-macular-degeneration/types/stargardt-disease#:~:text=Of%20those%20cases%2C%20the%20most,in%20his%20practice%20in%201901. report that Stargardt patients usually develop symptoms between the age of six and early adulthood. However, a late-onset form of this eye disease (occurring in middle adulthood)⁸8. Li, C. H. Z., Pas, J. A. A. H., Corradi, Z., Hitti-Malin, R. J., Hoogstede, A., Runhart, E. H., Dhooge, P. P. A., Collin, R. W. J., Cremers, F. P. M., & Hoyng, C. B.. Study of Late-Onset Stargardt Type 1 Disease. Ophthalmology. 2023. https://doi.org/10.1016/j.ophtha.2023.08.011 also exists.  

Diagnosis

When children start to experience a loss of normal vision, a thorough evaluation by a qualified medical professional with specific training in pediatric eye conditions is in order.

As the provider works to establish a diagnosis, they may recommend diagnostic procedures such as:

• Dilated eye exam: During this simple yet effective exam, the provider may see the characteristic yellow flecks of Stargardt disease on the affected person’s macula.
• Fundus fluorescein angiography (FFA)⁹9. Porter, D.. What Is Fluorescein Angiography?. American Academy of Ophthalmology. 2021. https://www.aao.org/eye-health/treatments/what-is-fluorescein-angiography: Dye is injected into a patient’s vein, then a special camera takes pictures of the blood flow inside the eye as the dye travels through the blood vessels. This procedure helps diagnose a variety of eye conditions.
• Optical Coherence Tomography (OCT¹⁰10. Turbert, D.. What Is Optical Coherence Tomography?. American Academy of Ophthalmology. 2023. https://www.aao.org/eye-health/treatments/what-is-optical-coherence-tomography): This non-invasive test allows the provider to see each aspect of the retina. By examining and measuring each layer, this data helps guide diagnosis and treatment decisions.
• Electroretinography (ERG) or Multifocal ERG (MF-ERG)¹¹11. Electrophysiology Testing. Retina Macula Institute. https://retinamaculainstitute.com/electrophysiology-testing: An ERG test is used to determine any unusual function of the photoreceptor cells in the retina. An MF-ERG test measures the specific function of the macula, as opposed to the entire retinal field.
• Genetic testing: Experts at Foundation Fighting Blindness¹²12. Genetic Testing For Retinal Degenerative Diseases: Information and Resources for Affected Individuals, Families and Health Care Providers. Foundation Fighting Blindness. https://www.fightingblindness.org/genetic-testing-for-retinal-degenerative-diseases-information-and-resources-for-affected-individuals-families-and-health-care-providers report that genetic testing may help confirm a possible diagnosis. It can also identify at-risk family members, determine probable disease progression, and help patients qualify for future clinical trials or emerging therapies.

Your child’s doctor may also recommend evaluating other family members to accurately diagnose Stargardt’s disease.

Therapeutic Treatments for Stargardt Disease

While many sources state there is no cure for Stargardt macular degeneration, a variety of prospective treatments are being actively investigated to help people with Stargardt disease.

These types of therapies include:

Medication Therapy

In 2022, the Cleveland Clinic¹³13. Stargardt disease: Diagnosis, causes & treatment. Cleveland Clinic. 2022. https://my.clevelandclinic.org/health/diseases/24298-stargardt-disease reported that research teams are investigating the use of metformin to slow the progression of Stargardt disease, in the hope of improving the health of damaged retinal cells. 

As of June 2023, a study¹⁴14. Farnoodian, M., Barone, F., Boyle, M., Gupta, R., Nelson, L. M., Bose, D. A., Jun, B., Gordon, W. C., Do, K. V., Guerin, M.-A. K., Cogliati, T., Walter, P., Huryn, L., Bazan, N. G., Brooks, B. P., & Bharti, K.. Metformin Attenuates the Hallmarks of Stargardt Disease. Investigative Ophthalmology & Visual Science. 2023. https://iovs.arvojournals.org/article.aspx?articleid=2785783 published in Investigative Ophthalmology and Visual Science was conducted as part of a clinical trial to learn if metformin affected the amount of fatty material present in the retina of people with Stargardt disease. The research team found that metformin may indeed be a promising, effective treatment for people with Stargardt disease because of its ability to break down fat.

Vitamin A Modulation

Experts at the American Academy of Ophthalmology state that vitamin A¹⁵15. Boyd, K.. What Is Vitamin A Deficiency?. American Academy of Ophthalmology. 2023. https://www.aao.org/eye-health/diseases/vitamin-deficiency#:~:text=Vitamin%20A%20plays%20an%20important,pigments%2C%20leading%20to%20night%20blindness. (also known as retinol), is a fat-soluble vitamin responsible, in part, for maintaining eye health—specifically with the photoreceptor cells in the retina.

Many experts, such as those at the American Macular Degeneration Foundation¹⁶16. Stargardt Disease Defined. American Macular Degeneration Foundation. 2016. https://www.macular.org/about-macular-degeneration/what-is-macular-degeneration/types/stargardt-disease#:~:text=Of%20those%20cases%2C%20the%20most,in%20his%20practice%20in%201901., recommend that patients with Stargardt disease be mindful of the amount of vitamin A they consume and avoid overuse or supplementation of this nutrient.

The genetic mutation responsible for causing Stargardt’s disease impacts the body’s ability to process vitamin A. Some researchers¹⁷17. Ma, L., Kaufman, Y., Zhang, J., & Washington, I.. C20-D3-vitamin A Slows Lipofuscin Accumulation and Electrophysiological Retinal Degeneration in a Mouse Model of Stargardt Disease. Journal of Biological Chemistry. 2011;286(10), 7966–7974. https://doi.org/10.1074/jbc.m110.178657 feel a possible route for treating juvenile macular degeneration is to change the vitamin A molecule itself, in the hopes of reducing the amount of fatty material produced as a byproduct. 

Gene Therapy

This treatment field includes a variety of gene therapies, including gene replacement therapies, to treat inherited retinal diseases. Many show promise in correcting other forms of retinal damage and are in varying stages of clinical trials.

Stem Cell Therapy

According to experts at Stargardt Foundation¹⁸18. Cell therapy. Stargardt Foundation. 2015. https://www.stargardt.fr/en/current-research-and-trials/cell-therapy, the goal of stem cell therapy is “to replace damaged cells with injected healthy cells” using grafts or cell transplants, which would allow that body part to resume its normal function. 

For people with Stargardt disease, two options are being investigated: retinal pigment epithelium (RPE) transplantation or photoreceptor cell transplantation. Either method, if successful, would possibly allow the new stem cells to take root and grow, effectively replacing those eliminated by cell death.

In time, this promising area of research will hopefully reach the stage of clinical trials.

Living with Stargardt’s Disease

With the loss of clear central vision, lowered visual acuity, and continued (possibly diminished) presence of peripheral vision, acquiring skills and using accommodations becomes the focal point of living with Stargardt disease.

Assistive Devices

The vast majority of patients with Stargardt disease will need some form of visual aid, particularly as the condition progresses. Fortunately, a wide variety¹⁹19. What is Stargardt Disease?. IALVS. https://ialvs.com/what-is-a-low-vision-exam/low-vision-eye-diseases/stargardt-disease/#:~:text=Magnifiers%20can%20help%20with%20reading,a%20range%20of%20daily%20functions. of low-vision aids exist to help Stargardt patients.

These include:

• Magnifiers. These devices help patients recognize other family members, read, or use electronic devices.
• Bioptics²⁰20. About Bioptics. Ocutech. https://www.ocutech.com/about-bioptics. These amazing devices can enhance the vision in one or both eyes and sit on top of regular glasses. They contain miniature telescopes, which allow users to have hands-free viewing of objects and activities at a range of distances. Adults with late-onset Stargardt disease could also continue to drive with this assistive device!
• Prism-based glasses²¹21. Glasses for Stargardts’ Disease. Low Vision Specialists. 2015. https://lowvisionmd.org/glasses-stargardts-disease. These unique glasses maneuver light rays to compensate for the “blind spot” that is present as part of macular degeneration. While the glasses can’t remove the blank space, they do allow it to be smaller. This makes close-range activities like writing, playing board games, and hobbies possible.
• Contact lenses²²22. Cures and actions to be taken. Stargardt Foundation. 2016. https://www.stargardt.fr/en/understanding-the-disease/traitement-et-prevention/#:~:text=On%20a%20daily%20basis%2C%20certain,lateral%20side%20of%20the%20eyes.. Exposure to ultraviolet (UV) light is thought to worsen vision for patients with Stargardt disease. Glasses or contact lenses that block UV light are recommended for daily use.
• Digital devices. Similar in appearance to other virtual reality headsets, IrisVision²³23. Lazarus, R.. IrisVision for Low Vision. Optometrists.org. 2021. https://www.optometrists.org/general-practice-optometry/guide-to-low-vision/low-vision/guide-to-low-vision-magnifiers/irisvision-for-low-vision is a wearable wireless device that uses an embedded camera to transmit images to the viewer. It can read text aloud and is ideal for activities like cooking, reading, hobbies, and using computers or phones. Other digital devices are also available.

Accommodations at Home

In addition to a variety of options that can be used to optimize your child’s vision, the team at MacularDegeneration.net²⁴24. Tips for Helping Your Child Cope With Stargardt Disease. MacularDegeneration.net. 2019. https://maculardegeneration.net/living/childhood-stargardt offers the following tips to help your child feel safe and comfortable at home:

Create high contrast environments. Picture this: You have low visual acuity and you’re trying to find your way through a room that’s painted white and holds light-colored furniture. Sounds tricky, right?

High-contrast environments involve using opposite colors (like dark furniture in a white room) to help your child navigate their environment more easily. Contrasting colors are easier to see (which, incidentally, is why babies tend to prefer black-and-white images).

Reduce clutter. It’s easier to single out an object if it’s not grouped with other items. (Imagine grabbing an orange out of a drawer full of mixed fruits.)

Consider using labeled bins (with contrasting colors on the labels) to hold specific items and always keep those items in their designated bins. 

You can also try placing a few items in a given space (such as bathroom counters), while leaving extra room around those objects as a way to help people with low visual acuity find items,

Adjust lighting and manage glare. Individuals with Stargardt disease may prefer different levels of light at different times of day. Allow your child to choose what types of light best suit their needs at a given moment for the task they need to accomplish.

Also, consider that dimming devices, such as sunglasses, hats, dimmer switches, etc., may be needed indoors to manage glare from reflective surfaces.

Consider safety. Moving through an environment can be dangerous with limited visual capabilities. Help protect your child by keeping walkways and paths clear of clutter and closing doors above stairs to prevent unintended accidents.

Use touch. These solutions don’t have to be fancy to be effective. The purpose is to help your child know which items, like toothbrushes, are specifically theirs.

Consider wrapping bubble wrap around the handle of your child’s brush, or placing a rubber band on their toothbrush handle. Did you know that Braille label makers exist? Consider using these for your child’s items if they’ve learned Braille.

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Accommodations at School

The IDEA Act²⁵25. Individuals with disabilities education act (IDEA). Individuals with Disabilities Education Act. https://sites.ed.gov/idea is a federal law that entitles an eligible child with disabilities to a free, appropriate public education. A formal document called an individualized education plan (IEP) will outline what accommodations and services a particular student will receive from the school as part of their education.

Because Stargardt disease can be diagnosed when children are in their early school years, having an IEP is very helpful to ensure that your child is reaching their academic potential while accommodating their visual limitations. 

Consider these ideas as you work with school officials to create an IEP for your child who is blind or visually impaired.

While there are promising treatment approaches and many useful accommodations, to date there is no known cure for Stargardt disease. However, support from family members, teachers, and your child’s medical care team can help your child navigate the challenges that are a part of a chronic condition like Stargardt disease.

FAQs

What research is currently being done to determine treatment options for Stargardt disease?

Several different organizations are actively researching Stargardt’s disease and other similar eye disorders:

• Foundation Fighting Blindness
• Macular Society 
• ClinicalTrials.gov

References

1. Porter, D. (2022, January 20). Visual Acuity. American Academy of Ophthalmology. https://www.aao.org/eye-health/tips-prevention/visual-acuity-3
2. Stargardt disease. Orpha Net. (2003, January). https://www.orpha.net/data/patho/GB/uk-Stargardt.pdf
3. What is Stargardt Disease? Foundation Fighting Blindness. (n.d.). https://www.fightingblindness.org/diseases/stargardt-disease#:~:text=It%20is%20inherited%20when%20both,one%20mutated%20copy%20of%20ABCA4.
4. Maugeri, A., Klevering, B. J., Rohrschneider, K., Blankenagel, A., Brunner, H. G., Deutman, A. F., Hoyng, C. B., & Cremers, F. P. M. (2000). Mutations in the ABCA4 (ABCR) gene are the major cause of autosomal recessive cone-rod dystrophy. The American Journal of Human Genetics, 67(4), 960–966. https://doi.org/10.1086/303079
5. Macula. American Academy of Ophthalmology. (2017, March 7). https://www.aao.org/eye-health/anatomy/macula-6
6. U.S. Department of Health and Human Services. (2021, September 29). Stargardt Disease. National Eye Institute. https://www.nei.nih.gov/learn-about-eye-health/eye-conditions-and-diseases/stargardt-disease
7. Stargardt Disease Defined. American Macular Degeneration Foundation. (2016, May 18). https://www.macular.org/about-macular-degeneration/what-is-macular-degeneration/types/stargardt-disease#:~:text=Of%20those%20cases%2C%20the%20most,in%20his%20practice%20in%201901.
8. Li, C. H. Z., Pas, J. A. A. H., Corradi, Z., Hitti-Malin, R. J., Hoogstede, A., Runhart, E. H., Dhooge, P. P. A., Collin, R. W. J., Cremers, F. P. M., & Hoyng, C. B. (2023). Study of Late-Onset Stargardt Type 1 Disease. Ophthalmology. https://doi.org/10.1016/j.ophtha.2023.08.011
9. Porter, D. (2021, June 28). What Is Fluorescein Angiography? American Academy of Ophthalmology. https://www.aao.org/eye-health/treatments/what-is-fluorescein-angiography
10. Turbert, D. (2023, April 27). What Is Optical Coherence Tomography? American Academy of Ophthalmology. https://www.aao.org/eye-health/treatments/what-is-optical-coherence-tomography
11. Electrophysiology Testing. Retina Macula Institute. (n.d.). https://retinamaculainstitute.com/electrophysiology-testing
12. Genetic Testing For Retinal Degenerative Diseases: Information and Resources for Affected Individuals, Families and Health Care Providers. Foundation Fighting Blindness. (n.d.-a). https://www.fightingblindness.org/genetic-testing-for-retinal-degenerative-diseases-information-and-resources-for-affected-individuals-families-and-health-care-providers
13. Stargardt disease: Diagnosis, causes & treatment. Cleveland Clinic. (2022, October 13). https://my.clevelandclinic.org/health/diseases/24298-stargardt-disease
14. Farnoodian, M., Barone, F., Boyle, M., Gupta, R., Nelson, L. M., Bose, D. A., Jun, B., Gordon, W. C., Do, K. V., Guerin, M.-A. K., Cogliati, T., Walter, P., Huryn, L., Bazan, N. G., Brooks, B. P., & Bharti, K. (2023, June 1). Metformin Attenuates the Hallmarks of Stargardt Disease. Investigative Ophthalmology & Visual Science. https://iovs.arvojournals.org/article.aspx?articleid=2785783
15. Boyd, K. (2023, May 2). What Is Vitamin A Deficiency? American Academy of Ophthalmology. https://www.aao.org/eye-health/diseases/vitamin-deficiency#:~:text=Vitamin%20A%20plays%20an%20important,pigments%2C%20leading%20to%20night%20blindness.
16. Stargardt Disease Defined. American Macular Degeneration Foundation. (2016, May 18). https://www.macular.org/about-macular-degeneration/what-is-macular-degeneration/types/stargardt-disease#:~:text=Of%20those%20cases%2C%20the%20most,in%20his%20practice%20in%201901.
17. Ma, L., Kaufman, Y., Zhang, J., & Washington, I. (2011). C20-D3-vitamin A Slows Lipofuscin Accumulation and Electrophysiological Retinal Degeneration in a Mouse Model of Stargardt Disease. Journal of Biological Chemistry, 286(10), 7966–7974. https://doi.org/10.1074/jbc.m110.178657
18. Cell therapy. Stargardt Foundation. (2015, April 9). https://www.stargardt.fr/en/current-research-and-trials/cell-therapy
19. What is Stargardt Disease? IALVS. (n.d.). https://ialvs.com/what-is-a-low-vision-exam/low-vision-eye-diseases/stargardt-disease/#:~:text=Magnifiers%20can%20help%20with%20reading,a%20range%20of%20daily%20functions.
20. About Bioptics. Ocutech. (n.d.). https://www.ocutech.com/about-bioptics
21. Glasses for Stargardts’ Disease. Low Vision Specialists. (2015, January 21). https://lowvisionmd.org/glasses-stargardts-disease
22. Cures and actions to be taken. Stargardt Foundation. (2016, June 9). https://www.stargardt.fr/en/understanding-the-disease/traitement-et-prevention/#:~:text=On%20a%20daily%20basis%2C%20certain,lateral%20side%20of%20the%20eyes.
23. Lazarus, R. (2021, May 3). IrisVision for Low Vision. Optometrists.org. https://www.optometrists.org/general-practice-optometry/guide-to-low-vision/low-vision/guide-to-low-vision-magnifiers/irisvision-for-low-vision
24. Tips for Helping Your Child Cope With Stargardt Disease. MacularDegeneration.net. (2019, June 12). https://maculardegeneration.net/living/childhood-stargardt
25. Individuals with disabilities education act (IDEA). Individuals with Disabilities Education Act. (n.d.). https://sites.ed.gov/idea

The information WonderBaby provides is not intended to be, and does not constitute, medical or other health advice or diagnosis and should not be used as such. Always consult with a qualified medical professional about your specific circumstances.