Aniridia

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Aniridia and WAGR Syndrome

Author : Jill Ann Nerby
Publisher : Oxford University Press
ISBN 13 : 0199741913
Total Pages : 208 pages
Book Rating : 4.1/5 (997 download)

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Book Synopsis Aniridia and WAGR Syndrome by : Jill Ann Nerby

Download or read book Aniridia and WAGR Syndrome written by Jill Ann Nerby and published by Oxford University Press. This book was released on 2010-04-07 with total page 208 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.

Aniridia

Author : Mohit Parekh
Publisher : Springer
ISBN 13 : 3319197797
Total Pages : 195 pages
Book Rating : 4.3/5 (191 download)

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Book Synopsis Aniridia by : Mohit Parekh

Download or read book Aniridia written by Mohit Parekh and published by Springer. This book was released on 2015-08-25 with total page 195 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.

Aniridia: New Insights for the Healthcare Professional: 2011 Edition

Author :
Publisher : ScholarlyEditions
ISBN 13 : 1464919011
Total Pages : 18 pages
Book Rating : 4.4/5 (649 download)

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Book Synopsis Aniridia: New Insights for the Healthcare Professional: 2011 Edition by :

Download or read book Aniridia: New Insights for the Healthcare Professional: 2011 Edition written by and published by ScholarlyEditions. This book was released on 2012-01-09 with total page 18 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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/.

NORD Guide to Rare Disorders

Author : National Organization for Rare Disorders
Publisher : Lippincott Williams & Wilkins
ISBN 13 : 9780781730631
Total Pages : 982 pages
Book Rating : 4.7/5 (36 download)

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Book Synopsis NORD Guide to Rare Disorders by : National Organization for Rare Disorders

Download or read book NORD Guide to Rare Disorders written by National Organization for Rare Disorders and published by Lippincott Williams & Wilkins. This book was released on 2003 with total page 982 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.

Clinical Ophthalmic Genetics and Genomics

Author : Graeme C.M. Black
Publisher : Elsevier
ISBN 13 : 0128139447
Total Pages : 490 pages
Book Rating : 4.1/5 (281 download)

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Book Synopsis Clinical Ophthalmic Genetics and Genomics by : Graeme C.M. Black

Download or read book Clinical Ophthalmic Genetics and Genomics written by Graeme C.M. Black and published by Elsevier. This book was released on 2022-01-20 with total page 490 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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

Treasury of Human Inheritance

Author : Karl Pearson
Publisher :
ISBN 13 :
Total Pages : 444 pages
Book Rating : 4.3/5 (555 download)

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Book Synopsis Treasury of Human Inheritance by : Karl Pearson

Download or read book Treasury of Human Inheritance written by Karl Pearson and published by . This book was released on 1928 with total page 444 pages. Available in PDF, EPUB and Kindle. Book excerpt:

The Stiles-Crawford Effect in Aniridia

Author : Vasudevan Lakshminarayanan
Publisher :
ISBN 13 :
Total Pages : 430 pages
Book Rating : 4.:/5 (29 download)

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Book Synopsis The Stiles-Crawford Effect in Aniridia by : Vasudevan Lakshminarayanan

Download or read book The Stiles-Crawford Effect in Aniridia written by Vasudevan Lakshminarayanan and published by . This book was released on 1985 with total page 430 pages. Available in PDF, EPUB and Kindle. Book excerpt:

Genetic Diseases of the Eye

Author : Elias I. Traboulsi
Publisher : OUP USA
ISBN 13 : 0195326148
Total Pages : 940 pages
Book Rating : 4.1/5 (953 download)

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Book Synopsis Genetic Diseases of the Eye by : Elias I. Traboulsi

Download or read book Genetic Diseases of the Eye written by Elias I. Traboulsi and published by OUP USA. This book was released on 2012-01-12 with total page 940 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book takes a clinical approach to the patient with a genetic disease that affects the eye. The chapters on particular types of diseases follow the same organizational format, covering history, pathogenesis and etiology, epidemiology, classification, clinical manifestations and diagnosis, and treatment. The recent progress achieved in the molecular genetics of eye disease is fully reflected throughout the book. It is written by leading experts in the field and provides clinical, molecular genetic and management information on common and rare diseases. The chapters are heavily illustrated and provide a good Atlas for the practicing ophthalmologist or geneticist.

Management on Complicated Ocular Trauma

Author : Hua Yan
Publisher : Springer Nature
ISBN 13 : 9811653402
Total Pages : 227 pages
Book Rating : 4.8/5 (116 download)

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Book Synopsis Management on Complicated Ocular Trauma by : Hua Yan

Download or read book Management on Complicated Ocular Trauma written by Hua Yan and published by Springer Nature. This book was released on 2021-11-22 with total page 227 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.

Syndromes: Rapid Recognition and Perioperative Implications

Author : Bruno Bissonnette
Publisher : McGraw-Hill Education / Medical
ISBN 13 :
Total Pages : 988 pages
Book Rating : 4.3/5 (91 download)

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Book Synopsis Syndromes: Rapid Recognition and Perioperative Implications by : Bruno Bissonnette

Download or read book Syndromes: Rapid Recognition and Perioperative Implications written by Bruno Bissonnette and published by McGraw-Hill Education / Medical. This book was released on 2006-08-10 with total page 988 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.

Canadian Medical Association Journal

Author : Canadian Medical Association
Publisher :
ISBN 13 :
Total Pages : 878 pages
Book Rating : 4.3/5 (243 download)

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Book Synopsis Canadian Medical Association Journal by : Canadian Medical Association

Download or read book Canadian Medical Association Journal written by Canadian Medical Association and published by . This book was released on 1927 with total page 878 pages. Available in PDF, EPUB and Kindle. Book excerpt:

Dark Lullaby

Author : Polly Ho-Yen
Publisher : Titan Books (US, CA)
ISBN 13 : 1789094267
Total Pages : 309 pages
Book Rating : 4.7/5 (89 download)

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Book Synopsis Dark Lullaby by : Polly Ho-Yen

Download or read book Dark Lullaby written by Polly Ho-Yen and published by Titan Books (US, CA). This book was released on 2021-03-23 with total page 309 pages. Available in PDF, EPUB and Kindle. Book excerpt: For fans of Black Mirror and The Handmaid’s Tale, a mother desperately tries to keep her family together in a society where parenting standards are strictly monitored. "With fabulous world-building and a plot so tight you could bounce a quarter off of it, Dark Lullaby is a Handmaid's Tale for the modern world, about the ways our human need for love can serve as both society's salvation, and its undoing." Sarah Langan, author of Good Neighbors The world is suffering an infertility crisis, the last natural birth was over twenty years ago and now the only way to conceive is through a painful fertility treatment. Any children born are strictly monitored, and if you are deemed an unfit parent then your child is extracted. After witnessing so many struggling to conceive – and then keep – their babies, Kit thought she didn’t want children. But then she meets Thomas and they have a baby girl, Mimi. Soon the small mistakes build up and suddenly Kit is faced with the possibility of losing her daughter, and she is forced to ask herself how far she will go to keep her family together.

A Treatise on diseases of the eye

Author : John Elmer Weeks
Publisher :
ISBN 13 :
Total Pages : 1012 pages
Book Rating : 4.F/5 ( download)

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Book Synopsis A Treatise on diseases of the eye by : John Elmer Weeks

Download or read book A Treatise on diseases of the eye written by John Elmer Weeks and published by . This book was released on 1910 with total page 1012 pages. Available in PDF, EPUB and Kindle. Book excerpt:

A Bibliography of Hereditary Eye Defects

Author : Lucien Howe
Publisher :
ISBN 13 :
Total Pages : 68 pages
Book Rating : 4.:/5 (44 download)

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Book Synopsis A Bibliography of Hereditary Eye Defects by : Lucien Howe

Download or read book A Bibliography of Hereditary Eye Defects written by Lucien Howe and published by . This book was released on 1928 with total page 68 pages. Available in PDF, EPUB and Kindle. Book excerpt:

Clinical Guide to Comprehensive Ophthalmology

Author : David A. Lee
Publisher : Thieme
ISBN 13 : 9780865777668
Total Pages : 752 pages
Book Rating : 4.7/5 (776 download)

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Book Synopsis Clinical Guide to Comprehensive Ophthalmology by : David A. Lee

Download or read book Clinical Guide to Comprehensive Ophthalmology written by David A. Lee and published by Thieme. This book was released on 1999 with total page 752 pages. Available in PDF, EPUB and Kindle. Book excerpt: To keep pace in today's competitive environment, comprehensive ophthalmologists must broaden the scope of their practice while still offering the highest standard of care in a time-pressured setting. This authoritative new text- in a clear a, user-friendly format- provides the wide coverage and quick access demanded in day-to-day practice. The book's practical, patient-oriented approach gives pointers for carrying out an examination and determining diagnosis and treatment strategies. To enable quick access to needed information, the text begins with the patient's presenting signs and symptoms, and progresses to in-depth coverage of individual clinical disorders. All are arranged by anatomical and functional systems. This is the ideal choice for practitioners and residents who need an authoritative and practical resource for quick, everyday reference.

Pediatric Neuro-Ophthalmology

Author : Michael C. Brodsky
Publisher : Springer Science & Business Media
ISBN 13 : 1461384575
Total Pages : 692 pages
Book Rating : 4.4/5 (613 download)

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Book Synopsis Pediatric Neuro-Ophthalmology by : Michael C. Brodsky

Download or read book Pediatric Neuro-Ophthalmology written by Michael C. Brodsky and published by Springer Science & Business Media. This book was released on 2012-12-06 with total page 692 pages. Available in PDF, EPUB and Kindle. Book excerpt: Pediatric Neuroophthalmology details the diagnostic criteria, current concepts of pathogenesis, neuroradiological correlates, and clinical management of a large group of neuroophthalmic disorders that present in childhood. Surprisingly distinct from neuroophthalmic disorders afflicting adults, this set of diseases falls between the cracks of most ophthalmology training, and thus, warrants a practical, clinical guide for the practitioner in ophthalmology - the neuroophthalmologist, pediatric ophthalmologist, general ophthalmologist - as well as neurologists and for residents. The authors, leading pediatric ophthalmologists, have taken this difficult subject matter and developed an accessible, user-friendly manual with a detailed approach to the recognition, differential diagnosis, and management of pediatric neuroophthalmologic disorders.

Ocular Surface Disease: Cornea, Conjunctiva and Tear Film

Author : Edward J Holland
Publisher : Elsevier Health Sciences
ISBN 13 : 1455728764
Total Pages : 474 pages
Book Rating : 4.4/5 (557 download)

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Book Synopsis Ocular Surface Disease: Cornea, Conjunctiva and Tear Film by : Edward J Holland

Download or read book Ocular Surface Disease: Cornea, Conjunctiva and Tear Film written by Edward J Holland and published by Elsevier Health Sciences. This book was released on 2013-05-17 with total page 474 pages. Available in PDF, EPUB and Kindle. Book excerpt: Ocular Surface Disease: Cornea, Conjunctiva and Tear Film incorporates current research and the latest management strategies as well as classification systems and treatment paradigms for all forms of ocular surface disease. This is the first comprehensive resource that helps you to meet ocular surface disease challenges effectively using today's best medical and surgical approaches. Get the complete, evidence-based guidance you need to provide optimal care for your patients with ocular surface disease. Implement the latest drug treatments and surgical interventions to provide better outcomes with fewer complications. Hone and expand your surgical skills by watching videos of leading experts performing advanced procedures including ocular surface transplantation techniques; amniotic membrane transplantation; pterygium surgery; lamellar keratoplasty (DALK) in ocular surface disease; and keratoprosthesis surgery. Visualize how to proceed by reviewing detailed, full-color images and consulting new classification systems and treatment paradigms for mild to severe forms of ocular surface disease. Take it with you anywhere! Access the full text, downloadable image library, video clips, and more online at expertconsult.com.