Aniridia is a genetic disorder in which a part of or all of iris of one or both eyes are absent. The colored part of eye is termed as iris.

Causes of Aniridia

The most common cause of Aniridia includes:

A detectable chromosome absence of the short arm of chromosome 11 can lead to Aniridia.

An individual having a family history for Aniridia is more vulnerable to get this disorder.

Aniridia is an autosomal dominant ailment and is the resultant of mutation in the PAX6 (paired box gene family)

Signs of Aniridia

The mostly found signs and symptoms of Aniridia include the 11 symptoms:  

  • Absence of the iris
  • Fading vision
  • Nystagmus
  • Cataract
  • Loss of luster in corneas
  • Glaucoma
  • Vision impairment
  • Absence of iris
  • Partial presence of iris
  • Blindness
  • Absence of muscles regulating the pupil

Treatment of Aniridia

There are a few treatments available out there for patients suffering from Aniridia are:

  • Kids with Aniridia should be carefully and regularly examined to make sure no associated problems develop.
  • Existing medical treatment for aniridia are miotics, beta-blocker, adrenergic agonists, and carbonic anhydrase inhibitors can also be put to trial nonetheless no drugs have been approved and suggested by the FDA for treating aniridic glaucoma.
  • Optical Correction- Contact lens and spectacles can also be suggested.
  • There are some surgical option available to treat aniridic glaucoma but there is no tested and convincing detail available as to which is preferable to the other procedure (Aniridia in the infants) for instance Goniotomy, trabeculetomy, setons, cyclophotocoagulation, cyclocryotherapy, and trabeculotomy.
  • Laser treatment can also be of use to angle disorders ( Aniridia)
  • The latest treatments are stem cell surgery, Repairing The Iris, Amniotic membrane transplantation, Reconstruction of Iris, Morcher Innovations in Australia

Type of Aniridia

There are four "types" of Aniridia:

  • Familial Aniridia

This is the most general type of Aniridia. It is passed on directly from a parent who has Aniridia. It is the due to the mutation in a gene called the “PAX6” gene.

  • Sporadic Aniridia

This is the second mostly found form of Aniridaia. The affected individual has a “new” mutation of the PAX6 gene which may occur before or soon after conception.  The cause of this mutation is not known.

  • WAGR Syndrome

This is rare type of Aniridia. The affected person has a “new” mutation.  In addition to involving PAX6 gene, this new mutation also involve a large number of neighboring genes.  This genetic disorder is termed as “deletion,” or set of missing genes, which are found on the short arm of chromosome number 11.

  • Gillespie Syndrome

Aniridia of this category is extremely rare. It is believed that Gillespie syndrome may be inherited through parents who don’t have Aniridia but both have one normal copy of the PAX6 gene, and another mutated copy. Multiple cases of Gillespie syndrome in a family have been reported.