7 Symptoms of WAGR Syndrome

WAGR Syndrome is a rare genetic disorder that affects children from birth. It is a condition that severely affects a person’s quality of life due to many abnormalities caused from the disorder. The underlying cause of the condition is the abnormality of chromosome 11, resulting in missing or faulty surrounding genes.

The syndrome begins at birth, with the child being diagnosed with one or more of three conditions: aniridia, genitourina malformations (GU), and/or mental retardation. Having one or more of these conditions is considered as having the AGR disorder. People born with AGR have a significantly higher risk of developing a Wilm’s tumor. With the development of this tumor, the condition then becomes known as WAGR.

Congenital anomalies of the genitals and the urinary tract are known as genitourina malformations (GU). This condition is detected in the perinatal stages. This condition can cause complications such as impaired renal function, sexual dysfunction, or urinary tract infections.

The Wilm’s tumor, also known as Nephroblastoma, is a cancer of the kidneys. This is the most common form of cancer among children. Although the disease is intense, the survival rate from this tumor is high being as much as 87% for patients in stage 5 of the disorder.

1. Visual Impairment

Aniridia is the cause of visual impairment in people with WAGR Syndrome. Aniridia is the most common symptom of WAGR syndrome and usually the first indicator. Due to the missing or incomplete iris, visual impairment can manifest itself in many different ways. Some of these ways include:

Cataracts

Cataracts This is a condition in which a person’s eye lens becomes cloudy or foggy. Untreated, this condition can result in blindness. Treatment can include replacing the lens with an artificial lens.
Glaucoma

Glaucoma This is a condition where fluid build-up causes increasing pressure on the eyeball over time. This results in damage to the optic nerve that causes progressive vision loss. Glaucoma can be treated with eye drops, medication, or surgery, but can not be cured. It is the leading cause of blindness in the United States.
Nystagmus

Nystagmus This is a condition that results in rapid, uncontrolled eye movements. The eyes may move up and down, side to side or in a circular motion. Although this doesn’t cause vision loss, it can cause blurred vision, loss of balance, or problems with depth perception.
Some types of visual impairment can be treated in a number of different ways. This can include medicine or surgery.