Released on 2012-01-12Categories Medical

Genetic Diseases of the Eye

Genetic Diseases of the Eye

Author: Elias I. Traboulsi

Publisher: OUP USA

ISBN: 9780195326147

Category: Medical

Page: 940

View: 211

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.
Released on 1994-12-01Categories Medical

Molecular Genetics of Inherited Eye Disorders

Molecular Genetics of Inherited Eye Disorders

Author: Alan F. Wright

Publisher: CRC Press

ISBN: 3718654938

Category: Medical

Page: 554

View: 669

Molecular Genetics of Inherited Eye Disorders provides an authoritative and up-to-date account of molecular genetic advances in a wide spectrum of genetic eye disorders, and forms the second volume in the Modern Genetics book series. The field has produced some dramatic and often unexpected findings in recent years ranging from the elegant unravelling of the molecular basis of colour vision defects to the subtle complexity of the retinoblastoma gene. The role of crystallins in congenital cataract and of the rhodopsin molecule in retinitis pigmentosa are discussed, illustrating the importance of the candidate gene approach to genetic eye disease. Reverse genetic approaches to the cloning of genes responsible for aniridia and choroideremia exemplify the power of the new genetic techniques and signal the start of the next experimental phase, in which the functional characterization of identified genes begins.
Released on 2018-09-22Categories Medical

Ophthalmic Genetic Disease

Ophthalmic Genetic Disease

Author: Natario L. Couser

Publisher: Elsevier Health Sciences

ISBN: 9780323654159

Category: Medical

Page: 198

View: 773

Comprehensive yet concise, Ophthalmic Genetic Diseases: A Quick Reference Guide to the Eye and External Ocular Adnexa Abnormalities, by Dr. Natario L. Couser, provides current, clinically focused information on more than 400 genetic eye diseases. This first-of-its-kind title is a useful resource for busy medical students, residents, or fellows, and is a handy quick reference for practicing ophthalmologists, geneticists, genetic counselors, pediatricians, optometrists, and other healthcare professionals who evaluate and manage patients with genetic eye diseases. Groups genetic abnormalities by anatomical location most often affected for easy reference. Synthesizes complex genetic data and research into digestible and practical guidance for understanding the genetic aspects of eye disease. Presents relevant clinical information in a concise and organized manner to help you make a diagnosis or assist in guiding referrals. Includes an appendix covering genetic eye disorders by clinical sign. Consolidates today’s available information and guidance into a single, convenient resource.
Released on 2018-11-03Categories Medical

Advances in Vision Research, Volume II

Advances in Vision Research, Volume II

Author: Gyan Prakash

Publisher: Springer

ISBN: 9789811308840

Category: Medical

Page: 468

View: 520

This second volume continues with a focus on the state of the art in genetic eye research in Asia and the Pacific. Though there has been an explosion of information on genetic eye research in western countries, more than sixty percent of the human genes involved in eye diseases in the Asian and Pacific population remain unknown. However, new efforts and a new awareness have sparked important discussions on the subject, and new plans are being implemented to discover the genes responsible for many eye diseases in the population. The book reviews the latest findings; its content ranges from genetic aspects of human migration to DNA sequence analysis, genome-wide association analysis, and disease phenotypes. The efforts of the Asian Eye Genetic Consortium (AEGC) are also discussed. The book’s editors have been instrumental in developing strategies for discovering the new Asian genes involved in many eye diseases. All chapters were written by leading researchers working on Asian eye genetics from the fields of Human Genetics, Ophthalmology, Molecular Biology, Biochemistry, Sensory Sciences, and Clinical Research. Advances in Vision Research, Volume II will prove to be a major resource for all researchers, clinicians, clinical researchers, and allied eye health professionals with an interest in eye diseases among the Asian population.
Released on 2022-03-11Categories Medical

Genetics of Ocular Diseases

Genetics of Ocular Diseases

Author: H. V. Nema

Publisher: Springer Nature

ISBN: 9789811642470

Category: Medical

Page: 210

View: 574

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.
Released on 2005-12-01Categories Medical

A Compendium of Inherited Disorders and the Eye

A Compendium of Inherited Disorders and the Eye

Author: Elias I. Traboulsi M.D.

Publisher: Oxford University Press

ISBN: 9780190291068

Category: Medical

Page: 272

View: 209

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.
Released on 1991-03-29Categories Medical

Inherited Eye Diseases

Inherited Eye Diseases

Author: Saul Merin

Publisher: CRC Press

ISBN: 0824774108

Category: Medical

Page: 528

View: 801

A standard textbook of the practicing ophthalmologist and the resident-in-training to consult when dealing with an inherited eye disease, enabling them to find the most likely diagnosis within the context of the various types and subtypes of genetic diseases, to obtain an in-depth understanding of t
Released on 2021-02-18Categories Medical

Advances in Vision Research, Volume III

Advances in Vision Research, Volume III

Author: Gyan Prakash

Publisher: Springer Nature

ISBN: 9789811591846

Category: Medical

Page: 478

View: 715

This third volume, with three supporting editors, broadens its focus on genetic eye research from the Asian to the global scale. New efforts and a new awareness have sparked important discussions on genetic eye research, and new plans are being implemented to identify the genes responsible for numerous eye diseases. The book introduces the latest findings on genetics in eye diseases, gene therapy, and genome-wide association analysis, and the efforts of the Global Eye Genetic Consortium (GEGC). The book’s editors have been instrumental in developing strategies for discovering the new genes involved in many eye diseases. All chapters were written by leading researchers working on eye genetics from the fields of Human Genetics, Ophthalmology, Molecular Biology, Biochemistry, Sensory Sciences, and Clinical Research. Advances in Vision Research, Volume III is a major resource for all researchers, clinicians, clinical researchers, and allied eye health professionals with an interest in eye diseases around the globe.
Released on 2005-08-12Categories Medical

Inherited Eye Diseases

Inherited Eye Diseases

Author: Saul Merin

Publisher: CRC Press

ISBN: 1574448390

Category: Medical

Page: 816

View: 906

Keeping pace with the changing face of genetics in ophthalmology, this Second Edition contains new chapters on molecular genetics, thrombophilia, and genetically triggered retinal vascular diseases, as well as offers many new subchapters highlighting current research by recognized leaders in the field.
Released on 2002Categories Medical

Genetics for Ophthalmologists

Genetics for Ophthalmologists

Author: Graeme Black

Publisher: Remedica Pub Limited

ISBN: 190134620X

Category: Medical

Page: 352

View: 772

Over the past decade advances in molecular biology have transformed our understanding of the genetic basis of a broad range of ophthalmic conditions and of the disease processes that underlie them. Genetics for Ophthalmologists gives a concise summary of the current clinical understanding of genetic ophthalmology and how it may be applied to diagnosis management and counseling of patients with inherited eye diseases. In addition the book gives detailed information of recent advances in genetic eye disease and how disease pathophysiology correlates with this molecular genetic information. Genetics for Ophthalmologists is aimed at general and specialist ophthalmologists, at trainees at all levels as well as at clinical and molecular geneticists interested in the genetics of eye disease.