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Author: Jill Ann Nerby
Publisher: Oxford University Press
ISBN: 0199741913
Category : Medical
Languages : en
Pages : 208
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Book Description
Our hope is to enlighten and encourage those affected by aniridia and WAGR Syndrome by providing patient support and medical information. There is information to inform parents, teachers, doctors, employers, and the public about aniridia and what it is like to live with it. Several renowned doctors contribute medical chapters. Personal experiences from individuals with aniridia and parents with children with aniridia provide encouragement. Contact information for Aniridia Foundation International (AFI) is included. When a child is born without a complete iris, it is usually a symptom of a broader condition. Known as aniridia, this condition can also be a sign other parts of the eye are underdeveloped as well. Moreover, recent research shows that the gene involved can also affect the kidneys, pancreas and forebrain, so aniridia can coincide with a range of symptoms known as WAGR syndrome. Until recently, however, there was very little information available on aniridia and WAGR Syndrome. Even now, not all of the available information is current or correct, so that when a child is diagnosed with aniridia, the parents often find or are given information that is confusing and even frightening. We created this book to help those families see that they are not alone, and there are a lot of answers and a great deal of hope. It contains information about aniridia and WAGR Syndrome for parents, other family members, friends, teachers, doctors, and employers. We have been very fortunate to have several renowned doctors contribute current and comprehensive medical information that will help to provide concrete answers to basic questions and demystify these conditions. The book has many personal stories from individuals and parents that will help to give a more complete picture of what it is like to live with aniridia and WAGR Syndrome and provide encouragement and comfort. It also contains information about where to go for more answers and support, including the Aniridia Foundation International (AFI), http://www.aniridia.net, a non-profit organization created by one of the authors, Jill Nerby. We hope that you will read this book and join us in creating a better future for those with aniridia and WAGR Syndrome.
Author: Jill Ann Nerby
Publisher: Oxford University Press
ISBN: 0199741913
Category : Medical
Languages : en
Pages : 208
Get Book Here
Book Description
Our hope is to enlighten and encourage those affected by aniridia and WAGR Syndrome by providing patient support and medical information. There is information to inform parents, teachers, doctors, employers, and the public about aniridia and what it is like to live with it. Several renowned doctors contribute medical chapters. Personal experiences from individuals with aniridia and parents with children with aniridia provide encouragement. Contact information for Aniridia Foundation International (AFI) is included. When a child is born without a complete iris, it is usually a symptom of a broader condition. Known as aniridia, this condition can also be a sign other parts of the eye are underdeveloped as well. Moreover, recent research shows that the gene involved can also affect the kidneys, pancreas and forebrain, so aniridia can coincide with a range of symptoms known as WAGR syndrome. Until recently, however, there was very little information available on aniridia and WAGR Syndrome. Even now, not all of the available information is current or correct, so that when a child is diagnosed with aniridia, the parents often find or are given information that is confusing and even frightening. We created this book to help those families see that they are not alone, and there are a lot of answers and a great deal of hope. It contains information about aniridia and WAGR Syndrome for parents, other family members, friends, teachers, doctors, and employers. We have been very fortunate to have several renowned doctors contribute current and comprehensive medical information that will help to provide concrete answers to basic questions and demystify these conditions. The book has many personal stories from individuals and parents that will help to give a more complete picture of what it is like to live with aniridia and WAGR Syndrome and provide encouragement and comfort. It also contains information about where to go for more answers and support, including the Aniridia Foundation International (AFI), http://www.aniridia.net, a non-profit organization created by one of the authors, Jill Nerby. We hope that you will read this book and join us in creating a better future for those with aniridia and WAGR Syndrome.
Author: Mohit Parekh
Publisher: Springer
ISBN: 3319197797
Category : Medical
Languages : en
Pages : 195
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Book Description
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.
Author: Bruno Bissonnette
Publisher: McGraw-Hill Education / Medical
ISBN:
Category : Medical
Languages : en
Pages : 988
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Book Description
Essential medical facts on over 2,000 genetic syndromes. Organized alphabetically, this book provides comprehensive medical coverage for each syndrome, from genetic basis to manifestations to related medical considerations.
Author:
Publisher: ScholarlyEditions
ISBN: 1464919011
Category : Medical
Languages : en
Pages : 18
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Book Description
Aniridia: New Insights for the Healthcare Professional: 2011 Edition is a ScholarlyPaper™ that delivers timely, authoritative, and intensively focused information about Aniridia in a compact format. The editors have built Aniridia: New Insights for the Healthcare Professional: 2011 Edition on the vast information databases of ScholarlyNews.™ You can expect the information about Aniridia in this eBook to be deeper than what you can access anywhere else, as well as consistently reliable, authoritative, informed, and relevant. The content of Aniridia: New Insights for the Healthcare Professional: 2011 Edition has been produced by the world’s leading scientists, engineers, analysts, research institutions, and companies. All of the content is from peer-reviewed sources, and all of it is written, assembled, and edited by the editors at ScholarlyEditions™ and available exclusively from us. You now have a source you can cite with authority, confidence, and credibility. More information is available at http://www.ScholarlyEditions.com/.
Author: Kenneth W. Wright
Publisher: Springer Science & Business Media
ISBN: 9780387954783
Category : Medical
Languages : en
Pages : 1126
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Book Description
The revision of this classic major reference will continue to outline the latest findings in diagnosing children's eye diseases and their treatment options. The information in this edition will be presented in the same user-friendly format, heavily illustrated in color plates, tables, charts, and decision-making guidelines. This approach will enable the practitioner to make the most accurate diagnosis and choose the most effective treatment option. The highlights of this edition will include the new coverage of surgical treatment options and illustrated surgical techniques. Also, it will cover the most comprehensive list ever published of systematic syndromes associated with ocular anomalies. The most notable breakthroughs in the past 5 years in pediatric ophthalmology are reflected through the field of medical genetics. Therefore each chapter will be completely updated and revised in order to reflect these changes.
Author: National Organization for Rare Disorders
Publisher: Lippincott Williams & Wilkins
ISBN: 9780781730631
Category : Medical
Languages : en
Pages : 982
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Book Description
NORD Guide to Rare Disorders is a comprehensive, practical, authoritative guide to the diagnosis and management of more than 800 rare diseases. The diseases are discussed in a uniform, easy-to-follow format--a brief description, signs and symptoms, etiology, related disorders, epidemiology, standard treatment, investigational treatment, resources, and references.The book includes a complete directory of orphan drugs, a full-color atlas of visual diagnostic signs, and a Master Resource List of support groups and helpful organizations. An index of symptoms and key words offers physicians valuable assistance in finding the information they need quickly.
Author: Graeme C.M. Black
Publisher: Elsevier
ISBN: 0128139447
Category : Medical
Languages : en
Pages : 490
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Book Description
Practical Genomics for Clinical Ophthalmology provides in-depth coverage of the clinical applications of genomics in eye disease, with a key emphasis on case-study based instruction in patient care and genetic counseling aspects, genetic and genomic diagnostics, and treatment pathways. The book presents the latest information on genetic and genomic test results, best practices for delivery of results to patients and families, and ongoing research into therapeutics, with specific chapters covering non-syndromic inherited retinal disease, syndromic IRD, vitreoretinopathies, lens abnormalities, corneal disease, albinism, anterior segment dysgenesis, glaucoma, developmental eye abnormalities, nystagmus, ocular motility disorders, optic neuropathies, phacomatoses, and retinoblastoma, and more. In addition, clinical case studies illustrate examples of common genetic eye disorders and highlight vital learning points for the reader. Presents the work of leading international researchers and clinicians who speak in-depth on the clinical applications of genomics in diagnosis and treatment of eye disease Provides full-color, richly illustrated chapters that cover current genetic and genomic testing methods employed in ophthalmology Includes instructions on the diagnosis and treatment of a wide range of conditions, including non-syndromic inherited retinal disease, syndromic IRD, vitreoretinopathies, lens abnormalities, corneal disease, albinism, anterior segment dysgenesis, glaucoma, and more Contains case studies that illustrate common genetic eye disorders and highlight vital learning points for the reader
Author: Karl Pearson
Publisher:
ISBN:
Category : Abnormalities, Human
Languages : en
Pages : 444
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Book Description
Author: Vasudevan Lakshminarayanan
Publisher:
ISBN:
Category :
Languages : en
Pages : 430
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Book Description
Author: Hua Yan
Publisher: Springer Nature
ISBN: 9811653402
Category : Medical
Languages : en
Pages : 227
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Book Description
This book is aimed at illustrating the common complicated ocular trauma with typical signs, examinations, surgical procedures and conservative management to clinical practitioners including the nurses, medical students, residents, fellows and ophthalmologists, and help them make the most appropriate decision on the diagnosis and management of such patients. There are 23 chapters introduced in the book, which covers all types of complicated ocular trauma with brief case reports combined with the most comprehensive pictures. For each disease, a brief introduction, explanation as well as management are offered to the readers. With the illustrative figures and explanations, the goal of making the right diagnose, offering the best advice or treatment to the patients, and understanding surgical procedures would be easily achieved. This book is useful for readers to be fully prepared for the challenge of complicated ocular traumatic cases. This is the fifth volume of the book series Ocular Trauma.
