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Aniridia

Recent Developments in Scientific and Clinical Research

Specificaties
Gebonden, 200 blz. | Engels
Springer International Publishing | 2015
ISBN13: 9783319197784
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Springer International Publishing e druk, 2015 9783319197784
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Samenvatting

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.  

Specificaties

ISBN13:9783319197784
Taal:Engels
Bindwijze:gebonden
Aantal pagina's:200
Uitgever:Springer International Publishing

Inhoudsopgave

<p>Preface                </p><p>What is Aniridia: Epidemiology, clinical features and genetic implications<br>Giuseppe Damante and Angela Valentina D’Elia Introduction<br><br>Optical Coherence Tomography imaging in patients with PAX6 mutations<br>Mervyn G Thomas and Irene Gottlob<br><br><br>Aniridic Glaucoma: Diagnosis and Treatment<br>Marchini G, Toscani M, Vizzari G<br><br>Management of Glaucoma in Congenital Aniridia<br>Peter A.  Netland<br><br>Clinical and surgical management of cataract in congenital aniridia<br>Dominique Brémond-Gignac<br><br>The ocular surface in aniridia<br>Paolo Rama, Maurizia Viganò,  and Karl Anders Knutsson<br><br>Aniridic Keratopathy: Conservative approaches<br>Dr. Santiago López García-Dra Isabel García Lozano<br><br>Lamellar and penetrating keratoplasty in congenital aniridia<br>Sandra Planella, María Fideliz de la Paz, Juan Alvarez de Toledo<br><br>Boston KPRoType I as a viable alternative to visual rehabilitation in aniridia patients: advances and limitations<br>Samantha Williamson, Kimberly Hsu, Jose de la Cruz<br><br>Cell therapy for regeneration of the corneal epithelium aniridic patients<br>JT Daniels, SJ Tuft and AJ Shortt<br><br>Strategies for success in limbal allograft transplantation for aniridia<br>Omar Hassan and Ali R Djalilian<br><br>The paediatric patient: identifying congenital aniridia as soon as possibleElena Piozzi and Davide Allegrini <br><br>Early diagnosis: the key roles of neonatologists, paediatricians and paediatric ophthalmologists<br>Kristina Tornqvist<br><br>Aniridia guides and aniridia-syndrome (Pax6-Syndrome) <br>Barbara Käsmann-Kellner, Arne Viestenz, Berthold Seitz<br><br>Assessing the visual function in congenital aniridia and following the child during daily life<br>Luisa Pinello<br><br />Children with aniridia and healthcare systems: from needs assessment to a comprehensive programme of care and assistance<br>Mazzucato M, Manea S, Minichiello C, Bua M, De Lorenzi M, Facchin P <br><br>European/international guidelines on Aniridia: the patients’ point of view<br>Barbara Poli, Rosa Sanchez de Vega, Corrado Teofili<br><br>What to do when diagnosed with Aniridia: the role of patients´ associations<br>Jill A Nerby<br><br>Conclusions and future perspectives<br>Tor Paaske Utheim<br><br>Index</p>
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        Aniridia