Aniridia

1. Front Matter

   Pages i-viii

   PDF

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

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.  

• Aniridia
• Cell Therapy
• Iris
• Ophthalmology
• Surgical Approaches

• 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

Policies and ethics