About Familial drusen

What is Familial drusen?

Familial drusen is a genetic disorder that affects the eyes. It is characterized by the presence of yellow deposits, called drusen, on the retina. These deposits can cause vision loss and other eye problems. It is usually inherited in an autosomal dominant pattern, meaning that only one copy of the mutated gene is needed to cause the disorder.

What are the symptoms of Familial drusen?

The most common symptom of Familial drusen is decreased vision. Other symptoms may include:

-Blurred vision

-Distorted vision

-Difficulty reading

-Difficulty seeing in low light

-Sensitivity to glare

-Seeing spots or floaters

-Reduced color vision

-Loss of central vision

-Loss of peripheral vision

-Double vision

-Eye Pain or discomfort

What are the causes of Familial drusen?

Familial drusen is a genetic disorder caused by mutations in the ABCA4 gene. This gene is responsible for producing a protein that helps transport fats and other molecules in the eye. Mutations in this gene can lead to the accumulation of lipids and other materials in the macula, which can cause drusen.

What are the treatments for Familial drusen?

1. Laser photocoagulation: This procedure uses a laser to seal off leaking blood vessels in the eye.

2. Anti-VEGF injections: These injections help to reduce the growth of abnormal blood vessels in the eye.

3. Vitrectomy: This procedure removes the vitreous gel from the eye and replaces it with a saline solution.

4. Photodynamic therapy: This procedure uses a light-activated drug to destroy abnormal blood vessels in the eye.

5. Surgery: Surgery may be used to remove drusen from the eye.

6. Vitamins and supplements: Taking certain vitamins and supplements may help to slow the progression of drusen.

What are the risk factors for Familial drusen?

The risk factors for Familial drusen include:

1. Age: Familial drusen is more common in people over the age of 50.

2. Genetics: Familial drusen is an inherited condition, so those with a family history of the condition are more likely to develop it.

3. Race: Familial drusen is more common in Caucasians than in other races.

4. Smoking: Smoking increases the risk of developing Familial drusen.

5. Sun exposure: Prolonged exposure to ultraviolet (UV) light increases the risk of developing Familial drusen.

Is there a cure/medications for Familial drusen?

At this time, there is no cure for Familial drusen. However, there are medications that can be used to slow the progression of the condition. These medications include anti-inflammatory drugs, such as corticosteroids, and immunosuppressants, such as cyclosporine. Additionally, laser photocoagulation and photodynamic therapy may be used to reduce the size of drusen and slow the progression of the condition.