Coats plus syndrome is a rare genetic disorder characterized by retinal telangiectasia, exudative retinopathy, and systemic abnormalities. It is caused by a mutation in the PIK3CA gene, which is responsible for the production of the enzyme phosphatidylinositol 3-kinase (PI3K). Symptoms of Coats plus syndrome include vision loss, seizures, developmental delays, and intellectual disability.

The symptoms of Coats plus syndrome vary from person to person, but may include:

-Retinal detachment
-Retinal telangiectasia
-Retinal hemorrhage
-Macular edema
-Glaucoma
-Cataracts
-Strabismus
-Nystagmus
-Visual impairment
-Developmental delay
-Intellectual disability
-Seizures
-Growth retardation
-Cardiac defects
-Cleft lip/palate
-Hearing loss
-Skeletal abnormalities
-Kidney abnormalities
-Gastrointestinal abnormalities
-Skin abnormalities

Coats plus syndrome is a rare genetic disorder caused by a mutation in the NSD1 gene. This gene is responsible for the production of a protein that helps regulate the activity of other genes. Mutations in this gene can lead to a variety of symptoms, including eye abnormalities, developmental delays, and intellectual disability.

The treatment for Coats plus syndrome is focused on managing the symptoms and complications associated with the condition. This may include:

• Surgery to remove abnormal blood vessels in the eye
• Laser therapy to reduce the risk of retinal detachment
• Regular eye exams to monitor for any changes in vision
• Medications to reduce intraocular pressure
• Surgery to repair any retinal detachment
• Regular monitoring of blood pressure and cholesterol levels
• Regular physical activity to help maintain a healthy weight
• Dietary modifications to reduce the risk of cardiovascular disease
• Genetic counseling to help families understand the condition and its implications

The primary risk factor for Coats plus syndrome is a genetic mutation in the NSD1 gene. This gene mutation is inherited in an autosomal dominant pattern, meaning that a person only needs to inherit one copy of the mutated gene from one parent in order to develop the condition. Other risk factors include a family history of Coats plus syndrome, advanced maternal age, and a history of consanguinity (marriage between close relatives).

At this time, there is no known cure for Coats plus syndrome. Treatment focuses on managing the symptoms and complications associated with the condition. Medications may be prescribed to help control high blood pressure, reduce swelling, and prevent blood clots. Surgery may be necessary to treat certain complications, such as retinal detachment or glaucoma.