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From Rodovid EN

Anaridia/Anridia is a congenital condition of the eyes whereby one (Usually the right eye) or both eyes manifest with either an enlarged pupil or undefined pupil (lack of defined iris). The eye usually appears nearly black or mostly black with only a very weakly defined blue border. The condition can vary from minor to severe and is caused by lack of normal function of the PAX6 gene. The gene can be deleted (absent), mutated or dysregulated.

If PAX6 is deleted a nearby gene, WT1, may be deleted as well. Deletion of WT1 and PAX6 may result in WAGR syndrome (Wilms tumor, Aniridia, Genital Anomalites, Retardation syndrome). Features suggestive of WAGR syndrome other than aniridia may not be present at birth. Individuals in whom both PAX6 and WT1 are deleted have up to a 50% risk of developing Wilm’s tumor in childhood, and a substantial risk of developing chronic renal failure by young adulthood. Surveillance protocols have been developed for this group.

Approximately 90% of individuals with isolated aniridia and a positive family history have a mutation in PAX6 detectable by mutation analysis (sequencing). They are not at increased risk of developing Wilm’s tumor. The eye phenotype can vary within the same family. Inheritance is autosomal dominant.

Approximately 30% of individuals without a family history of aniridia have a deletion of PAX6. Sequencing of PAX6 will be normal in these individuals and other types of genetic testing are necessary. In some people the WT1 gene is also deleted and they have a significant risk of developing Wilm’s tumor. In some cases, there is a significant recurrence risk for relatives.

People with Anridia can register with the Norwegian based Organization [|Foreningen Aniridi Norge]