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Aniridia

Recent Developments in Scientific and Clinical Research

  • Book
  • © 2015

Overview

Editors:
  1. Mohit Parekh

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

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  2. Barbara Poli

    1. Aniridia Europe, Sandefjord, Norway

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  3. Stefano Ferrari

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

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  4. Corrado Teofili

    1. Aniridia Italy, Rome, Italy

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  5. Diego Ponzin

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

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  • Current Research Dedicated To The Ocular Defects Of Aniridia

  • Latest Surgical Approaches

  • Special Attention To Pediatric Patients

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Table of contents (19 chapters)

  1. Front Matter

    Pages i-viii
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  2. Introduction – What Is Aniridia: Epidemiology, Clinical Features and Genetic Implications

    • Giuseppe Damante, Angela Valentina D’Elia
    Pages 1-8

  3. Optical Coherence Tomography Imaging in Patients with PAX6 Mutations

    • Mervyn G. Thomas, Irene Gottlob
    Pages 9-15

  4. Aniridic Glaucoma: Diagnosis and Treatment

    • Giorgio Marchini, Marco Toscani, Gabriele Vizzari
    Pages 17-26

  5. Management of Glaucoma in Congenital Aniridia

    • Peter A. Netland
    Pages 27-37

  6. Clinical and Surgical Management of Cataract in Congenital Aniridia

    • Dominique Brémond-Gignac
    Pages 39-44

  7. The Ocular Surface in Aniridia

    • Paolo Rama, Maurizia Viganò, Karl Anders Knutsson
    Pages 45-52

  8. Aniridic Keratopathy: Conservative Approaches

    • José Santiago López García, Isabel García Lozano
    Pages 53-62

  9. Lamellar and Penetrating Keratoplasty in Congenital Aniridia

    • Sandra Planella, María Fideliz de la Paz, Juan Alvarez de Toledo
    Pages 63-74

  10. Boston Kpro Type I as a Viable Alternative to Visual Rehabilitation in Aniridia Patients: Advances and Limitations

    • Samantha Williamson, Kimberly Hsu, Jose de la Cruz
    Pages 75-83

  11. Cell Therapy for Regeneration of the Corneal Epithelium in Aniridic Patients

    • Julie T. Daniels, S. J. Tuft, A. J. Shortt
    Pages 85-94

  12. Strategies for Success in Limbal Allograft Transplantation for Aniridia

    • Omar Hassan, Ali R. Djalilian
    Pages 95-104

  13. The Paediatric Patient: Identifying Congenital Aniridia as Soon as Possible

    • Elena Piozzi, Davide Allegrini
    Pages 105-118

  14. Aniridia: Early Diagnosis: The Key Roles of Neonatologists, Paediatricians and Paediatric Ophthalmologists

    • Kristina Tornqvist
    Pages 119-122

  15. Aniridia Guides and Aniridia-Syndrome (PAX6-Syndrome): Do’s and Dont’s in Clinical Care

    • Barbara Käsmann-Kellner, Arne Viestenz, Berthold Seitz
    Pages 123-154

  16. Assessing the Visual Function in Congenital Aniridia and Following the Child During Daily Life

    • Luisa Pinello
    Pages 155-160

  17. Children with Aniridia and Healthcare Systems: From Needs Assessment to a Comprehensive Program of Care and Assistance

    • M. Mazzucato, S. Manea, C. Minichiello, M. Bua, M. De Lorenzi, P. Facchin
    Pages 161-166

  18. European/International Guidelines on Aniridia: The Patients’ Point of View

    • Barbara Poli, Rosa Sánchez de Vega, Corrado Teofili
    Pages 167-171

  19. What to Do When Diagnosed with Aniridia: The Role of Patients’ Associations – Bringing Together Support, Education, and Research to Find the Aniridia Solution

    • Jill A. Nerby
    Pages 173-181

  20. Future Avenues of Research in Aniridia

    • Tor Paaske Utheim
    Pages 183-189
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Keywords

About this book

The aim of this book is to highlight the latest findings in Aniridia research. Aniridia, meaning “without iris”, is a rare genetic disorder affecting vision, characterized by the incomplete formation of the iris (the coloured part of the eye that surrounds the black pupil). It may also cause other segments of the eye to be under-developed such as the optic nerve and the macula (the central part of the retina). Aniridia and associated conditions affect individuals differently. So while some affected people are partially sighted or blind, others may have near normal sight. Aniridia is congenital (present at birth) and is caused by a dysfunction of the PAX6 gene, situated on the 11th chromosome that causes the premature cessation of eye development. Aniridia affects between 1:40,000 to 1:100,000 people, and affects males and females equally. People with Aniridia may also experience secondary conditions such as Photophobia, Nystagmus, Glaucoma, Cataracts and Keratopathy.  

Editors and Affiliations

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

    Mohit Parekh, Stefano Ferrari, Diego Ponzin

  • Aniridia Europe, Sandefjord, Norway

    Barbara Poli

  • Aniridia Italy, Rome, Italy

    Corrado Teofili

Bibliographic Information

  • Book Title: Aniridia

  • Book Subtitle: Recent Developments in Scientific and Clinical Research

  • Editors: Mohit Parekh, Barbara Poli, Stefano Ferrari, Corrado Teofili, Diego Ponzin

  • DOI: https://doi.org/10.1007/978-3-319-19779-1

  • Publisher: Springer Cham

  • eBook Packages: Biomedical and Life Sciences, Biomedical and Life Sciences (R0)

  • Copyright Information: Springer International Publishing Switzerland 2015

  • Hardcover ISBN: 978-3-319-19778-4Published: 08 September 2015

  • Softcover ISBN: 978-3-319-36394-3Published: 22 October 2016

  • eBook ISBN: 978-3-319-19779-1Published: 25 August 2015

  • Edition Number: 1

  • Number of Pages: VIII, 192

  • Number of Illustrations: 3 b/w illustrations, 54 illustrations in colour

  • Topics: Biomedicine general, Cell Biology, Ophthalmology

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