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
- Abnormality of the macula
- Aplasia/Hypoplasia of the iris
- Nystagmus
- Visual impairment
- Blepharophimosis
- Cataract
- Corneal erosion
- Ectopia lentis
- Glaucoma
- Keratoconjunctivitis sicca
- Opacification of the corneal stroma
- Optic atrophy
- Photophobia
- Ptosis
- Strabismus
- Abnormality of the genital system
- Abnormality of the hypothalamus-pituitary axis
- Abnormality of the sense of smell
- Abnormality of the teeth
- Aplasia/Hypoplasia of the corpus callosum
- Cognitive impairment
- Decreased corneal thickness
- Microcornea
- Ocular albinism
- Optic nerve coloboma
- Sensorineural hearing impairment
- Umbilical hernia
- Aniridia
- Autosomal dominant inheritance
- Hypoplasia of the fovea
- Optic nerve hypoplasia
Last updated: 1/1/2017
Source: GARD (NIH)1
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Back to: « Aniridia
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Symptoms and clinical features of the condition may include:2 Clinical Features of Aniridia:
- Autosomal dominant inheritance
- Glaucoma
- Cataract
- Aniridia
- Optic nerve hypoplasia
- Nystagmus
- Hypoplasia of the fovea
- Opacification of the corneal stroma
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More clinical features may include:3 Clinical Features of Aniridia:
- Abnormality of the genital system
- Abnormality of the dentition
- Sensorineural hearing impairment
- Microcornea
- Strabismus
- Glaucoma
- Visual impairment
- Ptosis
- Keratoconus
- Optic nerve coloboma
- Optic nerve hypoplasia
- Photophobia
- Nystagmus
- Abnormality of the hypothalamus-pituitary axis
- Ectopia lentis
- Keratoconjunctivitis sicca
- Macular hypoplasia
- Intellectual disability
- Global developmental delay
- Umbilical hernia
- Abnormality of the sense of smell
- Aplasia/Hypoplasia of the corpus callosum
- Iris hypopigmentation
- Opacification of the corneal stroma
- Macular hypopigmentation
- Aplasia/Hypoplasia of the iris
- Corneal neovascularization
- Short palpebral fissure
- Corneal erosion
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References
- Source: GARD (NIH): rarediseases.info.nih.gov/ diseases/ 5816/ aniridia
- Source: Human Phenotype Ontology
- ibid.
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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.