Aniridia

Recent Developments in Scientific and Clinical Research

  • Mohit Parekh
  • Barbara Poli
  • Stefano Ferrari
  • Corrado Teofili
  • Diego Ponzin

Table of contents

  1. Front Matter
    Pages i-viii
  2. Giorgio Marchini, Marco Toscani, Gabriele Vizzari
    Pages 17-26
  3. Peter A. Netland
    Pages 27-37
  4. Paolo Rama, Maurizia Viganò, Karl Anders Knutsson
    Pages 45-52
  5. José Santiago López García, Isabel García Lozano
    Pages 53-62
  6. Sandra Planella, María Fideliz de la Paz, Juan Alvarez de Toledo
    Pages 63-74
  7. Julie T. Daniels, S. J. Tuft, A. J. Shortt
    Pages 85-94
  8. Barbara Käsmann-Kellner, Arne Viestenz, Berthold Seitz
    Pages 123-154
  9. M. Mazzucato, S. Manea, C. Minichiello, M. Bua, M. De Lorenzi, P. Facchin
    Pages 161-166
  10. Barbara Poli, Rosa Sánchez de Vega, Corrado Teofili
    Pages 167-171
  11. Tor Paaske Utheim
    Pages 183-189

About this book

Introduction

​ 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.

Keywords

Aniridia Cell Therapy Iris Ophthalmology Surgical Approaches

Editors and affiliations

  • Mohit Parekh
    • 1
  • Barbara Poli
    • 2
  • Stefano Ferrari
    • 3
  • Corrado Teofili
    • 4
  • Diego Ponzin
    • 5
  1. 1.The Veneto Eye Bank Foundation, International Center for Ocular PhysiopathologyZelarinoItaly
  2. 2.Aniridia EuropeSandefjordNorway
  3. 3.The Veneto Eye Bank Foundation, International Center for Ocular PhysiopathologyZelarinoItaly
  4. 4.Aniridia ItalyRomeItaly
  5. 5.The Veneto Eye Bank Foundation, International Center for Ocular PhysiopathologyZelarinoItaly

Bibliographic information

  • DOI https://doi.org/10.1007/978-3-319-19779-1
  • Copyright Information Springer International Publishing Switzerland 2015
  • Publisher Name Springer, Cham
  • eBook Packages Biomedical and Life Sciences
  • Print ISBN 978-3-319-19778-4
  • Online ISBN 978-3-319-19779-1
  • About this book
Industry Sectors
Biotechnology
Consumer Packaged Goods
Pharma