Aniridia is a condition in which the iris (the colored part of the eye that forms the pupil) is malformed and often largely missing. Often there are associated eye abnormalities such as cataracts and glaucoma There may be associated nonocular malformations such as tumors of the kidney.
Several types of aniridia have been reported.
The iris malformations are present at birth and may be evident by simple inspection of the eye. However, the correct medical diagnosis is usually made by an ophthalmologist. In the single family reported (4 generation Chinese family) all affected members had cataracts by the age of 10 years. Cataracts occur by the age of 10 years. Two of the 8 affected members of the pedigree also had glaucoma.
No abnormalities other than those of the eye have been reported.
This is an autosomal dominant disorder in which affected parents can expect that half of their children will inherit it.
The iris malformations are present at birth and may be visible by direct inspection. However, an ophthalmology examination is necessary to confirm the diagnosis and to detect associated abnormalities such as cataracts and glaucoma. A general physical examination should be done to rule out other abnormalities such as tumors of the kidney (not reported in aniridia 3).
There is no evidence that longevity is impacted. Surgical removal of cataracts and treatment of glaucoma may be of benefit.