Stargardts Disease

Stargardt disease is a rare hereditary eye disease caused by fatty deposits on the macula.

What Is Stargardts Disease

Stargardts disease is a visual loss condition that affects children and young adults. It is an inherited illness, which means that it is handed down from parents to children.

Stargardts disease is also known as juvenile macular dystrophy. Photoreceptors, which are specific light-sensing cells in the macula, die out in persons with Stargardts illness. The central or detailed vision blurs or has dark regions. Color vision may also be compromised.

What types of Stargardts diseases exist

STGD1: The recessive type of Stargardt illness induced by mutations in the ABCA4 gene is by far the most frequent.
STGD4 is a rare dominant mutation in the PROM1 gene.
STGD3: A rare dominant type of Stargardt disease caused by ELOVL4 gene mutations.
Late-onset Stargardt disease is linked to missense mutations in ABCA4 that occur outside of recognized functional domains.

What are symptoms of Stargardts eye disease

Someone may initially become aware of an issue with their center vision. It may be distorted, hazy, or have black regions. Side vision (peripheral vision) is frequently unaffected. Colorblindness is a condition in which some individuals have difficulty perceiving colors.
When moving between bright and dark environments, eyesight may take longer to adapt than normal.
For some patients, Stargardt illness advances slowly at first, then quickly accelerates and finally plateaus. Vision loss may accelerate at roughly 20/40 vision (meaning someone sees at 20 feet what a normal-seeing person sees at 40 feet).
While most persons with Stargardt illness eventually lose their central vision, many may have strong side vision for the remainder of their lives.

What causes Stargardt disease

Stargardt disease is often caused by mutations in the ABCA4 gene. This gene influences how your body utilizes vitamin A.
Bits of fat and protein (also known as Drusen) accumulate behind your retina, a layer of tissue at the back of your eye that processes light.
Extra blood vessels grow underneath the macula of your eye in Wet AMD. These new arteries have a tendency to leak blood and other fluid into your eye, causing injury.
The ABCA4 gene does not function in Stargardt disease, causing fatty material to accumulate in yellowish clumps in the macula. This fatty stuff, over time, damages light-sensitive cells and degrades your central vision.
Stargardt disease is a hereditary genetic disorder that is handed on from parents to children.

How to detect Stargardts disease

Your doctor may order the following tests to diagnose Stargardt illness or to monitor your symptoms:

Color vision evaluation. Because Stargardt illness may result in color blindness, your eye doctor may also examine your color vision.
Photography of the fundus. To check for yellowish specks on your macula, your eye doctor may take a snapshot of your retina.
Electroretinography (ERG). Your eye doctor may use an ERG to determine how effectively your retina reacts to light.
Optical coherence tomography (OCT). This test use light waves to create a detailed image of your retina.
Genetic analysis. To confirm the diagnosis of Stargardt illness, your doctor may recommend a genetic test.

What treatments are available for Stargardts

Stargardt illness has no known cure. Although gene and pharmacological treatments are being studied,
In one promising research, retinal cells are given a healthy form of the Stargardt illness gene, ABCA4, to restore normal protein synthesis.
Another research uses stem cells to replace the retinal pigment epithelial (RPE) cells.
Other treatments try to minimize the development of lipofuscin, which causes visual loss in Stargardt illness.

Who is most vulnerable to Stargardts condition

Stargardt’s disease is the most prevalent kind of juvenile macular degeneration, affecting about one in every 10,000 children in the United States.
The condition affects both eyes and appears between the ages of five and early adulthood.
A genetic abnormality causes the photoreceptors in the eye to perish in Stargardt’s disease.
Vision loss starts slowly and eventually accelerates, impairing center vision so badly that an afflicted individual becomes legally blind while maintaining peripheral vision.

Is Stargardts disease an emergency

Stargardt’s vision loss often manifests itself throughout the first 20 years of a child’s life, especially in early infancy.
However, it is impossible to predict when or how quickly retinal damage may develop since variances can exist even among family members with comparable inherited tendencies.
In some circumstances, symptoms of Stargardt’s illness develop in infancy; nevertheless, a person with Stargardt’s (especially the fundus flavimaculatus type of the disease) may reach middle life before visual issues become apparent.
Those with the fundus flavimaculatus variant of the illness, on the other hand, are prone to suffer from much more severe vision loss.

What devices are available for Stargardts

eSight eye wear, a breakthrough low vision device, delivers tailored electronic spectacles for individuals with Stargardt’s illness, even if they are legally blind!

eSight combines a camera, display technology, and powerful computation to provide real-time video that allows persons with vision loss to see.

Users have total control over the picture they view, which means they may enhance, enlarge, and modify the image to ensure their eyes can best understand their surroundings. eSight does more than simply improve vision; it provides individuals the ability to utilize their vision anyway they see fit.

What happens if you don't treat Stargardts

In the absence of a cure for Stargardts disease, physicians often propose three measures to assist patients decrease the potential damage caused by the condition:

While oily fish is not a cure for Stargardt illness, it may lessen the chance of developing.
lowering the retina’s exposure to harmful UV light
Avoiding meals high in vitamin A, which may lead to the buildup of lipofuscin, a fatty substance that causes yellowish flecks in the retina.
Maintaining a healthy diet and general health; smoking and being overweight may lead to faster macula degeneration, but eating oily fish may minimize the risk of macular degeneration.

Who can help with treating Startgardts disease

Our Low Vision Aids (LVA) eye doctor can assist you in coping with the symptoms of vision loss. Stargardt disease is a hereditary eye condition that causes vision loss in infants and adolescents. It affects over 30,000 persons in the United States.

As part of a dilated eye exam, your eye doctor will look for Stargardt illness. The exam is easy and painless: your doctor will dilate (widen) your pupils with eye medications and then look for evidence of Stargardt disease, such as yellowish flecks in your macula.

Is everyone going to get Stargardts at some point

Stargardts disease does not affect everyone. Vision loss linked with the illness normally starts in infancy, although in certain cases, vision impairments may begin in adulthood. According to Orphanet, the gateway for rare illnesses, Stargardt disease affects roughly one in every 8,000 to 10,000 births.

Stargardt disease is an inherited disorder, which means it is handed down from generation to generation. Approximately 95% of Stargardt disease cases occur when both parents have the gene mutation.

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