Stargardt disease, also known as Stargardt Macular Dystrophy, is a hereditary disease. It is similar symptoms to macular degeneration that affects the retina with old age. But Stargardt disease, by virtue of being inherited, can affect young adults and even children.
One in approximately every ten thousand individuals is known to have Stargardt macular Dystrophy that leads to loss of central vision. It usually covers a cluster of diseases in which the light-sensitive cells in your retina, especially in the macula, get degenerated leading to poor focus and vision. One loses central vision while retaining most of the peripheral vision due to this.
This disease is also often called Fundus Flavimaculatus too because it is a variant of the same disease.
How is it diagnosed?
The easiest sign to diagnose Stargardt disease is the presence of yellowish degenerating tissue called drusen, which looks separate from the outer parts of the colored retina. This deterioration is accompanied by loss of vision, which in later stages can lead to complete blindness too.
Stargardt Disease Causes
As mentioned previously, Stargardt is a hereditary disease and therefore, caused when both of the parents carry the gene. Either a mutation of the gene meant for processing of vitamin A in your eyes or similar recessive genes are carried by parents who may not from the disease themselves. Around 5% of the population around the globe carries the genes that can cause retinal diseases that can be inherited by younger generations, Stargardt being a part of them.
Yet, the inheritance pattern of Stargardt is not entirely predictable, leading to variations in people it manifests in as far as 50% of individuals with only one parent carrying the gene can get Stargardt disease too.
Stargardt Disease Symptoms
After understanding the Stargardt disease causes, here are the most commonly recognized Stargardt disease symptoms of this disease are:
- Blurry or distorted vision
- Not being able to see well or see at all in low lighting
- Difficulty in focusing and recognizing finer details
- A gradual loss of central vision
- Full loss of color vision in later, more severe stages of the ailment
Progression of Stargardt
The disease expresses itself through vision loss, starting somewhere in the first twenty years of a person’s life, usually at a young age like early childhood. Despite knowing this, there is no way to know precisely when and what level of retinal degeneration will occur in different individuals. In fact, the chances of variations can be witnessed between different family members.
While in some cases, Stargardt and its symptoms occur at a young age, in other cases, people can happily reach middle age without ever getting any significant signs of the same. This happens mainly in the cases of Fundus Flavimaculatus rather than the normal strain of the disease.
The vision loss experienced from Stargardt is usually lesser as compared to that from Fundus Flavimaculatus. Not only central vision loss, but this type of juvenile macular degeneration also causes color vision abnormalities and photophobia in a lot of young people.
Stargardt Disease Treatment and Prevention
There may not be any guaranteed treatment for Stargardt out there, but there are several measures that both prevent the condition from worsening and help the patients’ symptoms. Research into this disease has many a time speculated that over-exposure to bright lights in everyday life could trigger the retinal damage that is characteristic of Stargardt Macular Dystrophy. The best preventive measure recommended here is to wear sunglasses or glasses that block out UV rays to lessen the sunlight’s more harmful effects on your eyes.
Other than prevention, if you are already suffering from Stargardt, your ophthalmologist is most likely to recommend custom tinted glasses that specifically block selected wavelengths of light to reduce further damage.
There is a lot of research being done in order to find viable treatments for this disease across the world. Some of these suggest that aggregated clumps of vitamin A in the retina, called “vitamin A dimers”, are a significant cause for retinal deterioration. Therefore, in efforts to find Stargardt disease treatment, many pharmaceutical companies are building drugs that can reduce the toxin waste generated in the processing of vitamin A in the retina of your eyes. These drugs are still in the clinical trial stages. Here are the companies working on these medicinal treatments:
- ALK-001 of Alkeus Pharmaceuticals is a modification of vitamin A that will reduce the problem.
- VCM2 Emixustat HCl of Acucela pharmaceuticals is meant to slow down the accumulation of retina damaging toxins in the eyes.
Other researches in technological and genetic solutions for this disease are also underway.
- Sanofi, for example, is working on a trial gene therapy that will potentially replace the mutated genes responsible for the disease, with healthy ones.
- Astellas is working on a stem cell treatment that will protect and regenerate photoreceptors damaged due to Stargardt.
- Opis Therapeutics is devising compatible grafts and stem cells to treat this disease completely too.
Since Stargardt disease is hereditary, ophthalmologists suggest that people with a family history of the same should get check-ups done to detect the disease early on.
Younger people are usually learning in schools and colleges, and Stargardt shouldn’t hinder this process. Before children can manifest it, regular eye tests should be done so that no symptoms or deterioration of vision is missed out.