Abstract
Aniridia is a rare, genetic disorder involving several structures of the eye. The disorder itself causes visual impairment which will most probably be worsened by the complications associated with the disease such as glaucoma, corneal clouding and cataract. The genetics include a mutation in the PAX6-gene on chromosome 11p13. More extensive alterations on the chromosome 11p may include the WT1-gene (Wilms tumor gene) which may cause WAGR-syndrome (Wilms tumor, anirida, genitouritary abnormalities and mental retardation). The ophthalmological signs include a partial or nearly total absence of the iris, foveal hypoplasia and nystagmus. Eventually severe complications such as glaucoma, corneal clouding which may be severe and cataract may worsen the situation.
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© 2015 Springer International Publishing Switzerland
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Tornqvist, K. (2015). Aniridia: Early Diagnosis: The Key Roles of Neonatologists, Paediatricians and Paediatric Ophthalmologists. In: Parekh, M., Poli, B., Ferrari, S., Teofili, C., Ponzin, D. (eds) Aniridia. Springer, Cham. https://doi.org/10.1007/978-3-319-19779-1_13
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DOI: https://doi.org/10.1007/978-3-319-19779-1_13
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