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.
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)
The mostly found signs and symptoms of Aniridia include the 11 symptoms:
There are a few treatments available out there for patients suffering from Aniridia are:
There are four "types" of 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.
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.
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.
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.