Aniridia

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 ...1

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Symptoms of Aniridia

Symptoms: 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. Signs and Symptoms

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Causes List: Aniridia

Some of the causes of the condition may include:2 Causes of Aniridia:

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Causes List for Aniridia

Some possible causes of Aniridia or similar disorders may include:3

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Types of Aniridia

Some of the types of this condition may include:4 Types of Aniridia:

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Genetics of Aniridia

Genetic Changes: Aniridia is caused by mutations in the PAX6 gene. The PAX6 gene provides instructions for making a protein that is involved in the early development of the eyes, brain and spinal cord (central nervous system), and the pancreas ...5

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Treatments: Aniridia

Aniridia: The treatment of aniridia is aimed at keeping the person's vision. Drugs or surgery may help when there is glaucoma or cataracts. Contact lenses can harm the cornea and should be avoided. ...Source: NHGRI (NIH)6 ...

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Names and Terminology

Other Names for This Condition

Source: GHR (NLM/NIH)7 ...

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References

  1. Source: GHR (NLM/NIH): ghr.nlm.nih.gov/ condition/ aniridia
  2. Source: Human Phenotype Ontology
  3. Source: Algorithmically Generated List
  4. Source: Human Phenotype Ontology
  5. Source: GHR (NLM/NIH): ghr.nlm.nih.gov/ condition/ aniridia
  6. Source: NHGRI (NIH): genome.gov/ 26023527/ learning-about-wagr-syndrome/ 
  7. Source: GHR (NLM/NIH): ghr.nlm.nih.gov/ condition/ aniridia

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Note: This site is for informational purposes only and is not medical advice. See your doctor or other qualified medical professional for all your medical needs.