Congenital aniridia
Summary:
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
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Symptoms of Congenital aniridia
Clinical features: Imported from Human Phenotype Ontology (HPO)
- Abnormality of the nervous system
- Optic nerve hypoplasia
- Congenital anomaly of eye
- Abnormality of the macula
- Aniridia
- Aplasia/Hypoplasia of the iris
- Foveal hypoplasia
- Glaucoma
- Nystagmus
- Opacification of the corneal stroma
- Optic nerve hypoplasia ...
Genetics of Congenital aniridia
Modes of inheritance:
Autosomal dominant inheritance (OMIM, Orphanet)
Autosomal dominant inheritance (HPO)
not inherited (Orphanet)
...Source: GTR (NCBI/NIH)2
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Treatments
See also the following treatment articles:
Causes
See also causal information:
Names and Terminology
Synonyms:
Aniridia ; Isolated Aniridia
...Source: GTR (NCBI/NIH)3
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References
- Source: GTR (NCBI/NIH): ncbi.nlm.nih.gov/ gtr/ conditions/ C0003076/
- ibid.
- ibid.
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