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.
Inhoudsopgave
Preface.- What is Aniridia: Epidemiology, clinical features and genetic implications.- Optical Coherence Tomography imaging in patients with PAX6 mutations.- Aniridic Glaucoma: Diagnosis and Treatment.- Management of Glaucoma in Congenital Aniridia.- Clinical and surgical management of cataract in congenital aniridia.- The ocular surface in aniridia.- Aniridic Keratopathy: Conservative approaches.- Lamellar and penetrating keratoplasty in congenital aniridia.- Boston KPRo Type I as a viable alternative to visual rehabilitation in aniridia patients: advances and limitations.- Cell therapy for regeneration of the corneal epithelium aniridic patients.- Strategies for success in limbal allograft transplantation for aniridia.- The paediatric patient: identifying congenital aniridia as soon as possible.- Early diagnosis: the key roles of neonatologists, paediatricians and paediatric ophthalmologists.- Aniridia guides and aniridia-syndrome (Pax6-Syndrome).- Assessing the visual function in congenital aniridia and following the child during daily life.- Children with aniridia and healthcare systems: from needs assessment to a comprehensive programme of care and assistance.- European/international guidelines on Aniridia: the patients’ point of view.- What to do when diagnosed with Aniridia: the role of patients´ associations.- Conclusions and future perspectives.- Index.
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