Summary about Disease
Stargardt disease, also known as Stargardt macular dystrophy or fundus flavimaculatus, is an inherited form of macular degeneration that causes progressive vision loss, usually starting in childhood or adolescence. It primarily affects the macula, the central part of the retina responsible for sharp, central vision needed for tasks like reading and recognizing faces.
Symptoms
Blurred or distorted central vision
Difficulty seeing in dim light
Sensitivity to glare
Color vision changes (difficulty distinguishing colors)
Blind spots in central vision (scotomas)
Causes
Stargardt disease is typically caused by mutations in the ABCA4 gene. This gene provides instructions for making a protein that transports vitamin A derivatives across the retina. Mutations in the *ABCA4* gene lead to a buildup of lipofuscin (a fatty substance) in the retinal pigment epithelium (RPE), causing damage to the macula and leading to vision loss. It is usually inherited in an autosomal recessive pattern, meaning both parents must carry a copy of the mutated gene for their child to be affected.
Medicine Used
There is currently no cure for Stargardt disease. However, research is ongoing to develop potential treatments, including:
Gene therapy: Aims to replace or repair the mutated ABCA4 gene.
Stem cell therapy: Aims to replace damaged RPE cells with healthy ones.
Visual cycle modulators: These medications aim to reduce the build-up of lipofuscin.
Supplements: Some studies suggest that certain supplements, such as vitamin A and omega-3 fatty acids, may have a protective effect. It's imperative to discuss any supplement use with a doctor or ophthalmologist, as some supplements might have a negative impact. *Note: This is not medical advice. Consult with a qualified healthcare professional for treatment options.*
Is Communicable
No, Stargardt disease is not communicable. It is a genetic condition caused by inherited gene mutations and cannot be spread from person to person.
Precautions
Genetic counseling: If you have a family history of Stargardt disease, genetic counseling can help you understand the risk of passing the condition on to your children.
UV protection: Wearing sunglasses that block UV light may help protect the retina from further damage.
Low vision aids: Using low vision aids, such as magnifiers and telescopic devices, can help people with Stargardt disease make the most of their remaining vision.
Regular eye exams: Regular eye exams can help monitor the progression of the disease and detect any complications.
Avoid smoking: Smoking can worsen macular degeneration and should be avoided.
How long does an outbreak last?
Stargardt disease is not an "outbreak" type of illness. It is a chronic, progressive condition. Vision loss typically worsens gradually over time, but the rate of progression can vary considerably from person to person. There are no periods of remission or "outbreaks".
How is it diagnosed?
Stargardt disease is diagnosed through a comprehensive eye exam, which may include:
Visual acuity test: Measures the sharpness of your vision.
Dilated eye exam: Allows the doctor to examine the retina and macula.
Fundus photography: Takes pictures of the back of the eye to document the appearance of the macula.
Fluorescein angiography: Uses a dye to highlight blood vessels in the retina and identify any abnormalities.
Optical coherence tomography (OCT): Provides detailed images of the layers of the retina.
Electroretinogram (ERG): Measures the electrical activity of the retina.
Genetic testing: Can confirm the diagnosis by identifying mutations in the ABCA4 gene.
Timeline of Symptoms
The timeline of symptoms can vary widely, but generally follows this pattern:
Childhood/Adolescence: Onset of symptoms, such as blurred or distorted central vision, often noticed when reading or watching TV.
Progressive Vision Loss: Over time, vision loss gradually worsens, affecting activities requiring central vision.
Variable Rate of Progression: The rate of vision loss varies between individuals; some experience rapid decline, while others have a slower progression.
Late Stages: Significant central vision loss may occur, although peripheral vision is usually preserved.
Important Considerations
Living with vision loss: Stargardt disease can have a significant impact on daily life. Connecting with support groups and learning about resources for people with low vision can be helpful.
Driving: Depending on the level of vision loss, driving may become unsafe or impossible.
Career and education: Adaptations may be necessary in school or at work to accommodate vision loss.
Emotional support: Dealing with a chronic condition like Stargardt disease can be emotionally challenging. Seeking support from family, friends, or a therapist can be beneficial.
Ongoing Research: Staying informed about the latest research and potential treatments can offer hope and improve management of the condition.