The Resource Aniridia : recent developments in scientific and clinical research, Mohit Parekh, Barbara Poli, Stefano Ferrari, Corrado Teofili, Diego Ponzin, editors

Aniridia : recent developments in scientific and clinical research, Mohit Parekh, Barbara Poli, Stefano Ferrari, Corrado Teofili, Diego Ponzin, editors

Label
Aniridia : recent developments in scientific and clinical research
Title
Aniridia
Title remainder
recent developments in scientific and clinical research
Statement of responsibility
Mohit Parekh, Barbara Poli, Stefano Ferrari, Corrado Teofili, Diego Ponzin, editors
Contributor
Editor
Subject
Genre
Language
eng
Summary
The aim of this book is to highlight the latest findings in Aniridia research. Aniridia, meaning 2without iris3, 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
Member of
Cataloging source
N$T
Dewey number
617.7/2
Illustrations
illustrations
Index
index present
LC call number
RE350
Literary form
non fiction
Nature of contents
dictionaries
NLM call number
WW 101
http://library.link/vocab/relatedWorkOrContributorName
  • Parekh, Mohit
  • Poli, Barbara
  • Ferrari, Stefano
  • Teofili, Corrado
  • Ponzin, Diego
http://library.link/vocab/subjectName
  • Iris (Eye)
  • MEDICAL
  • Iris (Eye)
  • Biomedicine
  • Biomedicine general
  • Cell Biology
  • Ophthalmology
  • Aniridia
  • Cellular biology (cytology)
  • Ophthalmology
  • Medical research
Label
Aniridia : recent developments in scientific and clinical research, Mohit Parekh, Barbara Poli, Stefano Ferrari, Corrado Teofili, Diego Ponzin, editors
Link
https://ezproxy.lib.ou.edu/login?url=http://link.springer.com/10.1007/978-3-319-19779-1
Instantiates
Publication
Note
Includes index
Antecedent source
unknown
Carrier category
online resource
Carrier category code
  • cr
Carrier MARC source
rdacarrier
Color
multicolored
Content category
text
Content type code
  • txt
Content type MARC source
rdacontent
Contents
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
Dimensions
unknown
Extent
1 online resource (viii, 192 pages)
File format
unknown
Form of item
online
Isbn
9783319197791
Level of compression
unknown
Media category
computer
Media MARC source
rdamedia
Media type code
  • c
Note
SpringerLink
Other control number
10.1007/978-3-319-19779-1
Other physical details
illustrations (some color)
Quality assurance targets
not applicable
Reformatting quality
unknown
Sound
unknown sound
Specific material designation
remote
System control number
  • (OCoLC)919252245
  • (OCoLC)ocn919252245
Label
Aniridia : recent developments in scientific and clinical research, Mohit Parekh, Barbara Poli, Stefano Ferrari, Corrado Teofili, Diego Ponzin, editors
Link
https://ezproxy.lib.ou.edu/login?url=http://link.springer.com/10.1007/978-3-319-19779-1
Publication
Note
Includes index
Antecedent source
unknown
Carrier category
online resource
Carrier category code
  • cr
Carrier MARC source
rdacarrier
Color
multicolored
Content category
text
Content type code
  • txt
Content type MARC source
rdacontent
Contents
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
Dimensions
unknown
Extent
1 online resource (viii, 192 pages)
File format
unknown
Form of item
online
Isbn
9783319197791
Level of compression
unknown
Media category
computer
Media MARC source
rdamedia
Media type code
  • c
Note
SpringerLink
Other control number
10.1007/978-3-319-19779-1
Other physical details
illustrations (some color)
Quality assurance targets
not applicable
Reformatting quality
unknown
Sound
unknown sound
Specific material designation
remote
System control number
  • (OCoLC)919252245
  • (OCoLC)ocn919252245

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