Stargardt disease
Stargardt Disease
It affects 1 in 10,000 people.
It is caused by mutations in 1 gene (ABCA4).
It is the 1a cause of hereditary macular dystrophy in childhood.
What is Stargardt Disease?
Stargardt disease is a hereditary disorder that affects the central area of the retina, known as the macula. It is characterised by the progressive degeneration of retinal cells, including photoreceptors (cones and rods). These cells are responsible for converting light into nerve impulses, which the brain interprets as images.
Although Stargardt disease is the leading cause of hereditary macular dystrophy in childhood, it is considered a rare condition, affecting approximately 1 in 10,000 people.
What Causes It?
Stargardt disease is caused by mutations in the ABCA4 gene, which is also responsible for other retinal dystrophies. The disease is usually inherited in an autosomal recessive manner. This means that the parents of affected individuals do not have the disease but are carriers of the gene mutation.
How Can It Be Prevented?
Since Stargardt disease is hereditary, it cannot be prevented. However, once diagnosed, patients are advised to avoid supplements containing vitamin A, as studies in animals have shown that vitamin A can accelerate the progression of the disease. Patients are also encouraged to protect themselves from intense light, especially sunlight, by wearing sunglasses with dark filters, as light exposure can worsen the condition.
Symptoms
Stargardt disease typically manifests between childhood and the age of 30. The first symptom is a slow, progressive loss of central vision (visual acuity), making it particularly difficult to see fine details, such as reading or recognizing faces.
As the disease progresses:
- Vision loss becomes more severe.
- Peripheral vision may be retained, but only about 10% of central visual acuity remains in the later stages.
There is also a variant of Stargardt disease, known as fundus flavimaculatus (FF), which is slower in progression but more severely affects peripheral vision.
Associated Treatments
Currently, there is no cure for Stargardt disease. However, the IMO Foundation is conducting research into the ABCA4 gene to better understand the disease. This research is part of the Investigating a Gene project, in collaboration with the La Caixa Banking Foundation and ONCE. The goal is to study the mutations causing Stargardt and other retinal dystrophies, and to develop new gene and cell therapies.
Potential treatments include:
- Gene therapies for patients in the early stages of the disease. These therapies aim to introduce healthy copies of the mutated gene into the patient's retina to restore function.
- Stem cell transplantation (cell therapy) for patients in advanced stages, as their retinal cells become irreparably damaged.
Note: Research and clinical trials are ongoing, with the hope of providing solutions to halt or reverse vision loss in the future.