Aniridia is an eye disorder characterized by a complete or partial absence of the colored part of the eye (the iris). These iris abnormalities may cause the pupils to be abnormal or misshapen. Aniridia can cause reduction in the sharpness of vision (visual acuity) and increased sensitivity to light (photophobia).[1] Aniridia may occur either as an isolated eye abnormality or as part of the Wilms tumor-aniridia-genital anomalies-retardation (WAGR) syndrome.[2]
People with aniridia can also have other eye problems including increased pressure in the eye (glaucoma), clouding of the lens of the eye (cataracts), or underdevelopment of the structures that carry information from the eyes to the brain (optic nerves). Individuals with aniridia may also have involuntary eye movements (nystagmus) or underdevelopment of the region at the back of the eye responsible for sharp central vision (foveal hypoplasia). Many of these eye problems contribute to progressive vision loss in affected individuals. The severity of symptoms is typically the same in both eyes. Rarely, people with aniridia have behavioral problems, developmental delay, and problems detecting odors.[1]The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. If available, the list includes a rough estimate of how common a feature is (its frequency). Frequencies are based on a specific study and may not be representative of all studies. You can use the MedlinePlus Medical Dictionary for definitions of the terms below.
| Signs and Symptoms | Approximate number of patients (when available) |
| Abnormality of the macula | 90% |
| Aplasia/Hypoplasia of the iris | 90% |
| Nystagmus | 90% |
| Visual impairment | 90% |
| Blepharophimosis | 50% |
| Cataract | 50% |
| Corneal erosion | 50% |
| Ectopia lentis | 50% |
| Glaucoma | 50% |
| Keratoconjunctivitis sicca | 50% |
| Opacification of the corneal stroma | 50% |
| Optic atrophy | 50% |
| Photophobia | 50% |
| Ptosis | 50% |
| Strabismus | 50% |
| Abnormality of the genital system | 7.5% |
| Abnormality of the hypothalamus-pituitary axis | 7.5% |
| Abnormality of the sense of smell | 7.5% |
| Abnormality of the teeth | 7.5% |
| Aplasia/Hypoplasia of the corpus callosum | 7.5% |
| Cognitive impairment | 7.5% |
| Decreased corneal thickness | 7.5% |
| Microcornea | 7.5% |
| Ocular albinism | 7.5% |
| Optic nerve coloboma | 7.5% |
| Sensorineural hearing impairment | 7.5% |
| Umbilical hernia | 7.5% |
| Aniridia | - |
| Autosomal dominant inheritance | - |
| Hypoplasia of the fovea | - |
| Optic nerve hypoplasia | - |
Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.
Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.
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I'm doing a research paper on aniridia and am wondering if there is a prenatal diagnosis for this disease or if that are any new advances in treatment. Any current information regarding this disease would be helpful. See answer
