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The Paediatric Patient: Identifying Congenital Aniridia as Soon as Possible

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Aniridia

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Abstract

Aniridia is a congenital panocular condition affecting iris, cornea, anterior chamber angle, lens, retina and optic nerve. It is rare but it can progressively impair vision in multiple causes including keratopathy, cataract, glaucoma, foveal hypoplasia, nystagmus. Aniridia is a genetic haplo-insufficiency expression of the PAX6 gene located on the chromosome 11p13. Aniridia, genital anomalies, retardation and Wilms tumor are called WAGR Syndrome. In this chapter we emphasize the importance of a thorough ophthalmologic evaluation of the anterior and posterior segment, and orthoptic for the evaluation of strabismus, nystagmus and ocular motility. The assessment of visual acuity for distance and near must take into account the age of the patient, in order to use more appropriate methods. There are various forms, w hich are different for clinical manifestations and visual acuity. It is important an early diagnosis and an early treatment of complications, to save visual ability and the visual field, in order to reduce the damage and to maintain a better quality of life in aniridic patients.

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Author information

Authors and Affiliations

  1. S. C. Oculistica Pediatrica Ospedale Niguarda, Milano, 20162, Italy

    Elena Piozzi MD

  2. Pediatric Department, Unit of Pediatric Ophthalmology, Niguarda Hospital MILAN, Milan, Italy

    Elena Piozzi MD & Davide Allegrini

  3. Niguarda, Milan, Italy

    Elena Piozzi MD

  4. University of Milan, San Paolo Hospital-Milan, Milan, Italy

    Davide Allegrini

Authors
  1. Elena Piozzi MD
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  2. Davide Allegrini
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Editor information

Editors and Affiliations

  1. The Veneto Eye Bank Foundation, International Center for Ocular Physiopathology, Zelarino, Italy

    Mohit Parekh

  2. Aniridia Europe, Sandefjord, Norway

    Barbara Poli

  3. The Veneto Eye Bank Foundation, International Center for Ocular Physiopathology, Zelarino, Italy

    Stefano Ferrari

  4. Aniridia Italy, Rome, Italy

    Corrado Teofili

  5. The Veneto Eye Bank Foundation, International Center for Ocular Physiopathology, Zelarino, Italy

    Diego Ponzin

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Piozzi, E., Allegrini, D. (2015). The Paediatric Patient: Identifying Congenital Aniridia as Soon as Possible. 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_12

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