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