Axenfeld-Rieger Syndrome, Type 1 (RIEG1)

1. Causes of the disease

Axenfeld-Rieger syndrome type 1 is a congenital disease caused by a mutation in the PITX2 gene, which mainly affects eye development. It is inherited in an autosomal dominant manner, and although it can be inherited from parents, mutations are also common.

2. Symptoms

• Eye abnormalities : There is an increased risk of iris defects, corneal abnormalities and glaucoma. Vision problems may progress.
• Dental abnormalities : Teeth may be fewer or differently shaped.
• Facial abnormalities : People may have certain facial features, such as a broad forehead or a low nasal bridge.
• Cardiovascular abnormalities : Some patients may have cardiovascular abnormalities.

3. 治療

• Eye care : Treatment is aimed at managing glaucoma and preserving vision. Surgery may be required.
• Dental treatment : Orthodontic and prosthetic treatment is required.
• Further management : If there are visceral or cardiovascular problems, they will be examined and managed by a specialist.

4. Prognosis

With proper treatment and management, it is possible to preserve vision, but regular eye care is important to prevent progression of visual impairment. Other symptoms also require professional management.

5. The burden on parents

The need for regular medical management can place a significant burden on parents in terms of time and money, and care must be provided at home with professional support.