Stargardt's Disease by

Description of the disease:

eguerard2 — 2024-10-07 19:57:58 UTC

Stargardt's disease is a rare genetic eye disease that is primarily characterized by loss of central vision. Due to the fatty material build up on the macula, Stargardt's disease causes slow loss of central vision, sensitivity to light, and color blindness. Stargardt's disease is an inherited genetic disease and is typically passed down when both parents have faulty ABCA4 genes.

Importance of understanding the disease:

eguerard2 — 2024-10-07 19:58:21 UTC

Stargardt disease is one of the most common forms of inherited retinal diseases. It is estimated 30,000 to 200,000 people in the U.S have this disease, and it was first described in 1909 by Karl Stargardt. Despite this, there is currently no treatment for Stargardt's disease, only management. As a common form of inherited retinal diseases, better understanding the Stargardts can lead to an overall breakthrough in improving the lives of those with inherited eye diseases.

Mutation that causes the disease:

eguerard2 — 2024-10-07 19:59:03 UTC

Stargardt's disease is caused by mutations in the ABCA4 gene, which affects how vitamin A is used in the body.

Vitamin A is used to make cells in the retina (the light-sensitive layer of tissue at the back of the eye). The ABCA4 gene makes a protein to clean up the fatty material that’s left over, however this gene does not work in people with Stargardt's disease. Instead, the fatty material builds up in yellowish clumps on the macula. The fatty material build-up kills the light-sensitive cells and destroys central vision (National Eye Institute).

Prevalence of the disease:

eguerard2 — 2024-10-07 19:59:17 UTC

It is estimated 1 in 10,000 people have this condition (Cleavland Clinic).

Methods of Testing:

eguerard2 — 2024-10-07 20:00:02 UTC

A dilated eye exam is a painless and simple procedure to test for Stargardt's disease. Color vision testing, Fundus photography, Electroretinography (ERG), Optical coherence tomography (OCT), and Genetic Testing are also used to diagnose and document Stargardt's disease.

Current study relevant to the disease:

eguerard2 — 2024-10-07 20:00:22 UTC

To treat Stargardts, Researchers at Case Western Reserve University are looking into the use of gene therapy, "the technology in which genetic material is introduced into cells by an engineered carrier to compensate for abnormal genes or to make a beneficial protein"(Daily). Typically, gene therapy involves viruses, as they can introduce new genes by "infecting" cells. This new research is focusing on using chemically modified lipids instead. Using these lipids, the team of researchers did not see Stargardt's disease "return in animal models for up to eight months after treatment" (Daily). Using lipids instead of viruses also reduces the likely hood of damage to the eye, making the future of this research very encouraging.

Responses

eguerard2 — 2024-10-12 22:27:52 UTC

Works Cited

eguerard2 — 2024-10-12 23:38:15 UTC

619673. “What Is Stargardt Disease?” American Academy of Ophthalmology, 3 Sept. 2024, www.aao.org/eye-health/diseases/what-is-stargardt-disease.

Scott, Michael. “Scientists Successfully Test New Way to Deliver Gene Therapy.” The Daily, 9 Mar. 2020, thedaily.case.edu/scientists-successfully-test-new-way-to-deliver-gene-therapy/.

“Stargardt Disease.” National Eye Institute, U.S. Department of Health and Human Services, www.nei.nih.gov/learn-about-eye-health/eye-conditions-and-diseases/stargardt-disease#:~:text=Stargardt%20disease%20is%20a%20rare%20genetic%20eye%20disease,start%20to%20lose%20their%20vision%20until%20they%E2%80%99re%20adults. Accessed 12 Oct. 2024.

“Stargardt Disease: Diagnosis, Causes & Treatment.” Cleveland Clinic, 1 May 2024, my.clevelandclinic.org/health/diseases/24298-stargardt-disease.

Treatments:

eguerard2 — 2024-10-13 00:10:12 UTC

There is currently no treatment for Stargardt's disease, however there are ways to manage the disease.

To slow vision degradation, wear hats and sunglasses to protect your eye from the sun, don't smoke, and avoid excess amounts of vitamin A intake.

How Stargardt's Affects Vision

eguerard2 — 2024-10-13 03:24:20 UTC