Stargardt Disease

Stargardt Disease, also called juvenile macular dystrophy, is a hereditary ocular condition primarily affecting the retina and is caused by mutations in the ABCA4 gene causing photoreceptor cell death.¹,² Photoreceptors are the cells in the retina that provide our most detailed vision, as well as, our color vision. Stargardt Disease is the most common inherited macular dystrophy affecting 1 in 8,000-10,000 people. Stargardt Disease Stargardt Disease presents as macular atrophy (disruption to the central portion of the retina, which normally provides our most detailed vision, including color vision) and gold flecks in the pigmented layer of the retina.¹ Generally, the later the onset of Stargardt Disease in life, the better visual acuity outcome. Patients with disease onset after 20 years old are increasingly likely to maintain visual acuity better than 20/200 throughout their life versus a patient with onset at a much younger age.³ 

Signs and symptoms of Stargardt Disease include: 

• Loss of central vision in both eyes 
• Decreased visual acuity  
• Color vision deficiencies¹ 
• Photophobia (light sensitivity)² 
• Slower than normal dark adaptation³  

Stargardt Disease is an autosomal recessive genetic condition, meaning both parents have to carry the mutated gene to pass it to their child.¹ 

Dilated eye examination: by an eye care provider, displaying macular atrophy and gold flecks in the back of the eye in patients with Stargardt disease.2 It’s important to note that some patients may not present with retinal flecks in childhood, as it may take longer for these signs to develop.¹ 

Optical coherence tomography (OCT): shows structural changes to the central macula.¹  

Fluorescein angiography (FA): fluorescein dye injected intravenously into one’s arm; dye travels to retinal vessels showing gold flecks and dark area in the macula.²

Genetic testing: available for the gene mutation that causes Stargardt Disease. 

There is no current FDA approved treatment for Stargardt Disease. Clinical trials in the area of gene therapy are currently ongoing.

Stargardt Disease can be slowly progressive, but degree and timing of vision loss vary significantly between patients, therefore it’s essential to maintain evaluations with an eye care provider to monitor changes in vision.¹ Low vision evaluations can help determine the types of devices that could benefit visual function and quality of life for someone with Stargardt Disease. It’s important for patients with Stargardt Disease to avoid smoking cigarettes and avoid high levels of Vitamin A.² 

1. Tanna, P., Strauss, R. W., Fujinami, K., & Michaelides, M. (2016). Stargardt disease: clinical features, molecular genetics, animal models and therapeutic options. British Journal of Ophthalmology, 101(1), 25–30. https://doi.org/10.1136/bjophthalmol-2016-308823 
2. Boyd, K., & Vemulakonda, G. A., MD. (2021, May 27). What Is Stargardt Disease? American Academy of Ophthalmology. Retrieved January 10, 2022, from https://www.aao.org/eye-health/diseases/what-is-stargardt-disease 
3. Cicinelli, M. V., Battista, M., Starace, V., Battaglia Parodi, M., & Bandello, F. (2019). Monitoring and Management of the Patient with Stargardt Disease. Clinical Optometry, 11, 151–165. https://doi.org/10.2147/opto.s226595