Genetics and Genomics of Eye Disease

• Author : Xiaoyi Raymond Gao
• Publisher : Academic Press
• Release Date : 2019-09-12
• ISBN : 9780128167274

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,

• Author : Elias I. Traboulsi
• Publisher : OUP USA
• Release Date : 2012-01-12
• ISBN : 9780195326147

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

• Author : Graeme C.M. Black,Jane L. Ashworth,Panagiotis I. Sergouniotis
• Publisher : Academic Press
• Release Date : 2022-01-18
• ISBN : 9780128139455

Clinical Ophthalmic Genetics and Genomics provides an accessible, clinically-focused reference for the evolving field of Genetic Ophthalmology. This well-organised, easy-to-read textbook integrates key concepts with clinical practice and is designed to enhance effective learning and retention of complex material. It includes contributions from recognised leaders in the field and provides expert guidance on the complete spectrum of genetic ophthalmic disorders. A structured introductory section offering a practical guide to the processes involved in diagnosing patients with genetic ophthalmic disorders Expert

• Author : Natario L. Couser
• Publisher : Elsevier Health Sciences
• Release Date : 2018-09-22
• ISBN : 9780323654159

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

• Author : B. Wissinger,Susanne Kohl,U. Langenbeck
• Publisher : Karger Medical and Scientific Publishers
• Release Date : 2003-01-01
• ISBN : 9783805575782

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

• Author : H. V. Nema,Nitin Nema
• Publisher : Springer
• Release Date : 2022-03-11
• ISBN : 981164246X

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

• Author : Elias I. Traboulsi M.D.
• Publisher : Oxford University Press
• Release Date : 2005-12-01
• ISBN : 9780190291068

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

• Author : Alex V. Levin,Mario Zanolli,Jenina E. Capasso
• Publisher : Thieme
• Release Date : 2017-11-21
• ISBN : 9781626232945

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

• Author : Gyan Prakash,Takeshi Iwata
• Publisher : Springer
• Release Date : 2018-11-03
• ISBN : 9789811308840

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

• Author : Dorota Kopacz
• Publisher : BoD – Books on Demand
• Release Date : 2021-01-07
• ISBN : 9781838809591

The ocular surface refers to the cornea, conjunctiva, lacrimal glands, and lid of the eye. It is composed of the mucosa that lines the globe and palpebrae, the corneoscleral limbus, the corneal epithelium, and the tear film. This book focuses on the tear film, describing its physiology, dynamics, and role in maintaining the health of the ocular surface. It also examines keratoconus, a condition affecting both the preocular tear film and the ocular surface in which the cornea thins and

• Author : Bernard Puech,Jean-Jacques De Laey,Graham E. Holder
• Publisher : Springer
• Release Date : 2014-07-19
• ISBN : 9783540694663

This lavishly illustrated atlas provides indispensable information to clinicians, geneticists and visual scientists working with inherited retinal diseases. It is filled with high-quality images, up-to-date genetic information and comprehensive electrophysiology. The data for each individual disorder have been summarised in an accessible, reader-friendly format for easy reference. The illustrations include colour fundus photographs, fluorescein angiograms, OCT scans, electrophysiological studies and pedigrees. The editors and authors are well-known experts in the field and have drawn upon their extensive experience to produce

• Author : H. V. Nema,Nitin Nema
• Publisher : Springer Nature
• Release Date : 2022-03-11
• ISBN : 9789811642470

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

• Author : HV Nema,Nitin Nema
• Publisher : JP Medical Ltd
• Release Date : 2014-05-30
• ISBN : 9789350908525

New edition presenting latest developments in ophthalmic diagnostic procedures. Fully revised and many new chapters. Previous edition published in 2009.

• Author : Roger E. Stevenson,Charles E. Schwartz,R. Curtis Rogers,Richard Curtis Rogers
• Publisher : Oxford University Press
• Release Date : 2012-07-12
• ISBN : 9780199811793

The Atlas of Intellectual Disability Syndromes presents a concise description of 150 clinically distinctive syndromes caused by genes on the X chromosome. Each entry includes photographs and a differential matrix of similar syndromes. Appendices identify syndromes with common features and provide the location or mapping limits and function of responsible genes.

• Author : Anonim
• Publisher : Academic Press
• Release Date : 2015-08-13
• ISBN : 9780128012673

This volume of Progress in Molecular Biology and Translational Science focuses on the molecular biology of eye disease. Contributions from leading authorities Informs and updates on all the latest developments in the field