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020 _a9783319197791
024 7 _a10.1007/978-3-319-19779-1
_2doi
050 4 _aRE350
_b.A557 2015
245 1 0 _aAniridia :
_bRecent Developments in Scientific and Clinical Research
_cedited by Mohit Parekh, Barbara Poli, Stefano Ferrari, Corrado Teofili, Diego Ponzin.
250 _a1st ed. 2015.
260 _aCham, Switzerland
_bSpringer
_c2015
300 _a1 recurso en línea (VIII, 192 páginas)
_b57 ilustraciones, 54 ilustraciones en color
336 _aTexto
_btxt
_2rdacontent
337 _aelectrónico
_bc
_2rdamedia
338 _arecurso electrónico
_bcr
_2rdacarrier
505 0 _aPreface -- 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 patientsâ€{u0C2F}int of view -- What to do when diagnosed with Aniridia: the role of patients ássociations -- Conclusions and future perspectives -- Index.
520 3 _aThe aim of this book is to highlight the latest findings in Aniridia research. Aniridia, meaning “without irisâ€{uC829}s 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.
710 2 _aSpringerLink (Online service)
_0Local
_9106996
942 _2lcc
_cLE
988 _aEBOOK, EBSPRINGER, asignarmaterias_11febrero
650 7 _aCitología
_0
_2embne
_9139477
650 2 7 _aCiencias biomédicas
_0
_2embne
_9143729
650 7 _aOftalmología
_0
_2embne
_9139186
700 1 _aParekh, Mohit
_eeditor literario
_993878
_0Local
700 1 _aPoli, Barbara
_eeditor literario
_993879
_0Local
700 1 _aFerrari, Stefano
_eeditor literario
_993880
_0Local
700 1 _aTeofili, Corrado
_eeditor literario
_993881
_0Local
700 1 _aPonzin, Diego
_eeditor literario
_993882
_0Local
856 4 0 _uhttps://go.openathens.net/redirector/universidadeuropea.es?url=https://link.springer.com/book/10.1007/978-3-319-19779-1
_zAcceso a este recurso digital (usuarios Universidad Europea de Madrid)
907 _a.b12900370
_b10-10-17
_c18-01-16
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