Aniridia is a complex disease

Aniridia is a rare inborn genetic decease which is characterized by absence of iris. It is accompanied by photophobia, nystagmus, significant deterioration of vision, possible degeneration of concea, cataract, glaucoma and other problems of the eye. In addition to that, aniridia might be accompanied by pathology of other organs and systems (nervous, urigenital, endocrine and digestive systems) and be a part of syndromes:

1. WAGR syndrome is a very rare decease. According to estimations of specialists, there are only about 300 patients in the world. WAGR abbreviation includes first letters of its main symptoms:

- Wilms tumor
About 50% of WAGR patients have Wilms tumor (kidney cancer). On the first stage Wilms tumor usually has no symptoms. Later blood might appear in child’s urine, and child might suffer from loss of appetite and weight, weakness and fever. Wilms tumor usually develops at the age between 1 and 5. In some cases, Wilms tumor might be detected at the age of 8.
WAGR patients have to run ultra-sound examination of internal organs on quarterly basis till the age of 8. Survival forecast for this tumor is optimistic depending on the symptoms and stage of cancer. For Wilms tumor treatment, chemical therapy, ray therapy or nephrectomy operation might be needed.

- Aniridia (ref. What is Aniridia?)

- Genitourina problems. Boys might suffer from anomaly of ovarium and nephrogonoducts, and girls from anomaly of ovary development, uterine tubes and vagina. Ovary cancer is not excluded. WAGR patients must regularly check protein in urine and run ultrasonography of the urinal system.

- мental Retardation
WAGR patients might often but not always suffer from delay in mental development or mental retardation.

Scientists recently determined 2 more deceases related to WAGR syndrome, although they are not included in the abbreviation:

- Chronic renal insufficiency. 40% of WAGR children patients suffer from chronic renal insufficiency, usually during the teenage.

- Pancreatitis

WAGR syndrome studies are currently run under supervision of Institute of Child Health and Human Development.

International WAGR syndrome association website

WAGR syndrome presence might be detected by genetic test.

2. Gillespie syndrome: a very rare decease (1-9 on 1 000 000 persons) that was called after the English doctor who described it for the first time. The syndrome includes:
- Aniridia.
- Cerebellar ataxia characterizes the state of hypomyotonia that causes difficulties in preserving balance and coordination. The child cannot walk without help and talk or write clearly.
- Mental handicap.
Gillespie syndrome patients might also suffer from ptosis, hearing development delay and
valvular pulmonary stenosis.
Gillespie syndrome patients do not suffer from cataract and concea pannus. This syndrome is also not related to Wilms tumor development.

3. Glucose intolerance / diabetes.
As we know, PAX6 gene plays an important role in eye development. Recent researches showed that PAX6 gene also participates in endocrine cells formation. That is why it is very important to follow sugar level in blood.  

4. Obesity
Aniridia patients often suffer from metabolism problems and obesity.

5. Autism
Autism is one of nonspecific developmental disabilities characterized by early uncooperativeness symptoms (before 30 months), speech development disability with echolalia and strange behaviour refusing changes in the surrounding or inadequate attachment to items. Atuism causes behavioral and cognitive problems such as speech retardation, social isolation, hypersensitivity to sound and light, and also insensitivity to possible danger.
6. Sensory disorders or difficulties in procession of information received from sense organs (vision, hearing, touch and smelling).

There are also studies of a relation between aniridia and sleeping disorder and also aural and verbal memory.