-PDF Download- Wills Eye Handbook Of Ocular Genetics EBOOK

Wills Eye Handbook of Ocular Genetics

Author: Alex V. Levin

Publisher: Thieme

Published: 2017-11-21

Total Pages: 307

ISBN-13: 1626232946

Many serious, potentially blinding eye disorders have a genetic basis. Currently, there are relatively few ocular geneticists in the world, yet inherited eye disease is one of the leading causes of blindness worldwide. Significant strides have been made in gene identification and acquisition of knowledge on the underlying mechanisms of hereditary eye disease. The field of ocular genetics is becoming an increasingly relevant part of ophthalmologists' purview. This has resulted in a dire need for a comprehensive textbook ophthalmologists and other professionals who work with patients with genetic disorders can utilize to gain a better understanding of inherited eye disorders. The Wills Eye Handbook of Ocular Genetics, by Alex Levin, Mario Zanolli, and Jenina Capasso of Wills Eye Hospital, is a practical, reader-friendly guide on the diagnosis and management of ophthalmic genetic conditions. Every chapter begins with a disease overview, followed by relevant modern genetic concepts, pathways to attaining the correct diagnosis, and pitfalls and pearls gleaned from years of hands-on expertise. At the end of each chapter, questions and answers enable readers to test their knowledge in real-life scenarios they might face in everyday practice. The ultimate goal of this clinically robust handbook is to facilitate optimal patient management and outcomes. Key Features Fundamentals, including basic genetics, inheritance patterns, genetic testing, and ethical issues Patient-centered genetic counseling issues such as reproduction, dealing with emotional reactions, prognosis, and future options Anterior segment disorders - from corneal dystrophies and aniridia - to childhood cataract and microphthalmia A broad spectrum of vitreoretinopathies and retinal diseases including incontinentia pigmenti, retinitis pigmentosa, Bardet-Biedl syndrome, choroideremia, Stargardt disease, achromatopsia, and juvenile X-linked retinoschisis This textbook is essential reading for practitioners at all levels and in all subspecialties including ophthalmology and genetics. They will find it an excellent resource for navigating the complexities of genetic eye disease.

Genetics of Ocular Diseases

Author: H. V. Nema

Publisher: Springer Nature

Published: 2022-03-11

Total Pages: 210

ISBN-13: 9811642478

DOWNLOAD EBOOK →

The book focuses on describing the importance of genetics in eye diseases in a comprehensive and concise manner. Mutations in different set of genes have been detected and incriminated in complex mechanisms of causing leading eye diseases such as cataract and glaucoma. This book written by well-established ophthalmologists and geneticists presents a complicated subject in simple and easy to understand manner. Chapters cover the concept of gene therapy which is an emerging subject with high potential. The book includes a separate chapter on genetic counseling, which has become an integral component of ophthalmology. The book will assist the practicing ophthalmologists in early diagnosis of genetic eye diseases as well as help the geneticists in understaning the basic concepts. It will also be useful for students who are preparing for MD, MS, DNB and FRCS examinations.

The Wills Eye Manual

Author: Kalla Gervasio

Publisher: Lippincott Williams & Wilkins

Published: 2021-04-29

Total Pages: 787

ISBN-13: 1975160770

DOWNLOAD EBOOK →

Clinical Ophthalmic Genetics and Genomics

Author: Graeme C.M. Black

Publisher: Elsevier

Published: 2022-01-20

Total Pages: 490

ISBN-13: 0128139447

DOWNLOAD EBOOK →

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

Genetics in Ophthalmology

Author: B. Wissinger

Publisher: Karger Medical and Scientific Publishers

Published: 2003-01-01

Total Pages: 230

ISBN-13: 3805575785

DOWNLOAD EBOOK →

The objective of this publication is to enhance mutual understanding and communication between ophthalmologists, molecular geneticists, genetic counselors and biomedical researchers. In the introductory chapter, current genetic paradigms and experimental genetic approaches relevant to the nature of hereditary disorders are discussed. The following contribution on the epidemiology of hereditary ocular disorders provides an excellent reference to geneticists as well as clinicians. Myopia is presented as an example of a complex clinical phenotype where genes and environment interact. Further molecular ophthalmogenetic topics, such as corneal dystrophies, cataract, glaucoma, opticus neuropathy, non-syndromic and syndromic pigmentary retinopathies, defects of vitamin A metabolism and macular dystrophies including age-related macular degeneration, are investigated in depth. The volume concludes with a survey of color vision deficiencies, a discussion of animal models and gene therapy, and a useful description of technical devices supporting patients who are losing sight.

The Wills Eye Strabismus Surgery Handbook

Author: Leonard Nelson

Publisher: CRC Press

Published: 2024-06-01

Total Pages: 115

ISBN-13: 1040138187

DOWNLOAD EBOOK →

Although residents and pediatric ophthalmology fellows examine patients in the clinic, they may not be involved in surgery on the same patients and even less often get to follow the progress of these patients postoperatively. The Wills Eye Strabismus Surgery Handbook is designed to address this challenge in residency and fellowship education as a manual focused on developing surgical plans for strabismus patients. Drs. Leonard B. Nelson and Alex V. Levin and their contributors have organized The Wills Eye Strabismus Surgery Handbookto allow for the reader to take notes regarding their own diagnosis and treatment plan for each case that is presented. This workbook style and its practical, easy-to-read format make this resource useful for written and oral board preparation, and as a handy reference guide for use long after exams are over. Each chapter presents an introduction into the decision-making process for a specific strabismus condition, followed by the surgical plans selected by three expert Wills Eye Strabismus Center strabismologists with regard to their approach to the presented case. Summary remarks by the chapter editor briefly review the basic concepts in developing a diagnosis and treatment plan while bringing together the varied opinions offered by the strabismologists in order to put them in context. Topics covered include: Strabismus surgery decision making Esotropia Exotropia Dissociated vertical deviation Cranial nerve palsies Strabismus syndromes Strabismus in systemic disease Reoperations Nystagmus Other complex strabismus cases The Wills Eye Strabismus Surgery Handbook is an essential resource for residents and pediatric ophthalmology fellows, as well as other ophthalmologists, looking to develop their surgical planning skills. It is a helpful field guide for any ophthalmologists who does strabismus and who is looking for a handy addition to their reference shelf.

Wills Eye Institute 5-Minute Ophthalmology Consult

Author: Joseph I. Maguire

Publisher: Lippincott Williams & Wilkins

Published: 2012-01-18

Total Pages: 2150

ISBN-13: 1451180519

DOWNLOAD EBOOK →

The Wills Eye Institute 5-Minute Ophthalmology Consult provides a readily accessible and focused compendium of ophthalmic abnormalities that will be useful for students, physicians and ancillary medical staff. Evidence-based references are included and algorithmic flow diagrams are provided for rapid problem solving. In keeping with the very successful 5-Minute Clinical Consult brand, over 330 topics will be covered, each in a highly formatted 2-page spread.

A Compendium of Inherited Disorders and the Eye

Author: Elias I. Traboulsi M.D.

Publisher: Oxford University Press

Published: 2005-12-01

Total Pages: 272

ISBN-13: 0190291060

DOWNLOAD EBOOK →

During the past two decades, our understanding of the molecular genetics of inherited eye diseases, their classification, and management has undergone a huge expansion as the field of human genetics has benefited from technological advances and increased interest by physicians and scientists in all fields. As a result, the amount of clinical and basic-science information on inherited systemic and eye diseases has become so large that general ophthalmologists, ophthalmic subspecialists, and physicians in other fields have found it difficult to keep up. This volume will act as a guide because it catalogues all the latest information about genetic diseases that involve the eye and presents it in a practical and accessible format. After an introductory chapter that reviews basic clinical and molecular-genetic principles, individual diseases and groups of diseases are listed alphabetically in order to make it as easy as possible to search for an entry. The material in each entry is a synthesis of numerous articles and reviews on the topic, accompanied by at least one high-quality illustration, at least one webpage of a patient support group or other organization related to the disease, and references that provide the original description of the disease, an excellent review, or useful illustrations. There is also a companion website containing electronic copies of all the illustrations to make it easy to use them in lectures. Health-care professionals who need immediate access to clinical and basic-science information on inherited systemic and eye diseases will find this volume indispensable.

Wills Eye Manual

Author: Julie Jane

Publisher:

Published: 2021-11-05

Total Pages: 81

ISBN-13:

DOWNLOAD EBOOK →

A best-selling source of compact, authoritative guidance on the treatment of ocular disorders in a variety of settings, The Wills Eye Manual, 8th Edition, is the comprehensive, high-yield reference of choice for both trainees and seasoned practitioners. It provides highly illustrated information on more than 200 ophthalmic conditions along with proven clinical recommendations from initial diagnosis through extended treatment. The consistent, bulleted outline format makes it ideal for portability and quick reference. Provides current, superbly illustrated information on more than 200 ophthalmic conditions in a handy, portable manual, along with extensive multimedia content. Features easily accessible clinical recommendations for evaluation, diagnosis, management, and treatment. Contains updates on the latest major clinical trials in ophthalmology, as well as two expertly produced new videos and many new clinical images added. Addresses changing trends in oculoplastics, glaucoma, cornea, pediatrics, neuro-ophthalmology, uveitis, retina, and more. Includes videos depicting a wide range of common procedures with step-by-step narration, carefully selected to complement key techniques. All chapters written and edited by the residents and attending ophthalmologists at one of the busiest and largest eye hospitals in the country. Enrich Your eBook Reading Experience Read directly on your preferred device(s), such as computer, tablet, or smartphone. Easily convert to audiobook, powering your content with natural language text-to-speech.

Genetics and Genomics of Eye Disease

Author: Xiaoyi Raymond Gao

Publisher: Academic Press

Published: 2019-09-12

Total Pages: 383

ISBN-13: 0128167270

DOWNLOAD EBOOK →

Genetics and Genomics of Eye Disease: Advancing to Precision Medicine thoroughly examines the latest genomics methods for studying eye disease, including complex eye disorders associated with multiple genes. GWAS, WES, WGS, RNA-sequencing, and transcriptome analysis as employed in ocular genomics are discussed in-depth, as are genomics findings tied to early-onset glaucoma, strabismus, age-related macular degeneration, adult-onset glaucoma, diabetic retinopathy, keratoconus, and leber congenital amaurosis, among other diseases. Research and clinical specialists offer guidance on conducting preventative screenings and counseling patients, as well as the promise of machine learning, computational statistics and artificial intelligence in advancing ocular genomics research. Offers thorough guidance on conducting genetic and genomic studies of eye disease Examines the genetic basis of a wide range of complex eye diseases and single-gene and Mendelian disorders Discusses the application of genetic testing and genetic risk prediction in eye disease diagnosis and patient counseling