About Autosomal dominant vitreoretinochoroidopathy

What is Autosomal dominant vitreoretinochoroidopathy?

Autosomal dominant vitreoretinochoroidopathy (ADVIRC) is a rare genetic disorder that affects the eyes. It is characterized by progressive vision loss due to the degeneration of the retina, choroid, and vitreous. Symptoms may include decreased vision, night blindness, and the presence of floaters. Treatment typically involves laser therapy and/or surgery to slow the progression of the disease.

What are the symptoms of Autosomal dominant vitreoretinochoroidopathy?

The symptoms of Autosomal dominant vitreoretinochoroidopathy (ADVIRC) vary from person to person, but may include:

-Decreased vision

-Night blindness

-Photophobia
-Decreased color vision
-Retinal detachment
-Macular edema
-Retinal pigment epithelial atrophy
-Vitreous degeneration
-Choroidal neovascularization
-Retinal vascular tortuosity
-Retinal hemorrhages
-Retinal exudates
-Retinal folds
-Retinal holes
-Retinal cysts
-Retinal scarring
-Cataracts

What are the causes of Autosomal dominant vitreoretinochoroidopathy?

The exact cause of autosomal dominant vitreoretinochoroidopathy (ADVIRC) is unknown. However, it is believed to be caused by a mutation in the COL2A1 gene, which is responsible for producing type II collagen. Mutations in this gene can lead to a decrease in the production of type II collagen, which is essential for the structure and function of the vitreous, retina, and choroid.

What are the treatments for Autosomal dominant vitreoretinochoroidopathy?

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

2. Vitrectomy: This is a surgical procedure that removes the vitreous gel from the eye and replaces it with a saline solution.

3. Intravitreal injections: This is a procedure that involves injecting medications directly into the vitreous gel of the eye.

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

5. Anti-VEGF therapy: This is a type of medication that is injected into the eye to reduce the growth of abnormal blood vessels.

6. Corticosteroid injections: This is a type of medication that is injected into the eye to reduce inflammation.

What are the risk factors for Autosomal dominant vitreoretinochoroidopathy?

1. Family history of autosomal dominant vitreoretinochoroidopathy
2. Age (most commonly affects individuals between the ages of 20 and 40)
3. Genetic mutations in the PROM1 gene
4. Exposure to ultraviolet light
5. Certain medications, such as hydroxychloroquine and chloroquine

Is there a cure/medications for Autosomal dominant vitreoretinochoroidopathy?

At this time, there is no known cure for autosomal dominant vitreoretinochoroidopathy. However, there are medications that can be used to manage the symptoms of the condition. These medications include corticosteroids, non-steroidal anti-inflammatory drugs (NSAIDs), and anticoagulants. Additionally, laser photocoagulation and vitrectomy may be used to treat certain complications of the condition.