Ophthalmic Genetic Diseases

• Author : Natario L. Couser
• Publisher : Elsevier
• Release Date : 2018-09-24
• ISBN : 0323654142

This book provides current, clinically focused information on more than 400 genetic eye diseases.

• 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 : 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 : 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 : 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 : 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 : 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 : Saul Merin
• Publisher : CRC Press
• Release Date : 2005-08-12
• ISBN : 1574448390

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.

• 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 : Gyan Prakash,Takeshi Iwata
• Publisher : Springer
• Release Date : 2017-04-24
• ISBN : 9784431565116

This book presents 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

• Author : Gary H. Cassel
• Publisher : JHU Press
• Release Date : 2021-04-27
• ISBN : 9781421439990

Useful for everyone, including general medical professionals who want to learn more about the health of the eyes, this up-to-date, in-depth, and authoritative book will serve as a users' manual for the eyes and help promote better vision for a brighter tomorrow.

• Author : Giuseppe Querques,Eric Souied
• Publisher : Springer
• Release Date : 2016-02-15
• ISBN : 9783319266213

​This book provides the ophthalmologist with the most recently available data on the macular dystrophies, a group of many different inherited or sporadic eye conditions linked by a problem with photoreceptors or other structures of the central retina. Internationally recognized experts in the field present the latest evidence and discuss their own personal experiences with regard to each of the principal dystrophies as well as some very rare entities. Topics covered include molecular biology, state-of-the-art diagnostic techniques, and the newest