Clinical Ophthalmic Genetics and Genomics

Author:   Graeme C.M. Black (Professor of Genetics and Ophthalmology, Central Manchester University Hospitals NHS Foundation TrustDphil, FRCOphth, Manchester, UK) ,  Jane L. Ashworth (Pediatric Ophthalmology Consultant, Manchester Royal Eye Hospital, Manchester, UK) ,  Panagiotis I. Sergouniotis (Senior Lecturer and Consultant in Genetic Ophthalmology, University of Manchester, UK)
Publisher:   Elsevier Science Publishing Co Inc
ISBN:  

9780128139448


Pages:   496
Publication Date:   20 January 2022
Format:   Paperback
Availability:   Temporarily unavailable   Availability explained
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Clinical Ophthalmic Genetics and Genomics


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Overview

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.

Full Product Details

Author:   Graeme C.M. Black (Professor of Genetics and Ophthalmology, Central Manchester University Hospitals NHS Foundation TrustDphil, FRCOphth, Manchester, UK) ,  Jane L. Ashworth (Pediatric Ophthalmology Consultant, Manchester Royal Eye Hospital, Manchester, UK) ,  Panagiotis I. Sergouniotis (Senior Lecturer and Consultant in Genetic Ophthalmology, University of Manchester, UK)
Publisher:   Elsevier Science Publishing Co Inc
Imprint:   Academic Press Inc
Weight:   1.540kg
ISBN:  

9780128139448


ISBN 10:   0128139447
Pages:   496
Publication Date:   20 January 2022
Audience:   Professional and scholarly ,  Professional & Vocational
Format:   Paperback
Publisher's Status:   Active
Availability:   Temporarily unavailable   Availability explained
The supplier advises that this item is temporarily unavailable. It will be ordered for you and placed on backorder. Once it does come back in stock, we will ship it out to you.

Table of Contents

Section I. Genomics and the eye 1. Genetic disorders and genetic variants 2. Genetic testing techniques 3. Genetic variant interpretation 4. Genetic counselling and family support 5. Syndromic conditions and the eye 6. Ophthalmic phenotyping. Electrophysiology 7. Ophthalmic phenotyping. Imaging 8. Gene therapy and treatment trials Section II. Genetic disorders affecting the anterior segment 9. Genetic disorders affecting the cornea 10. Anterior segment developmental disorders 11. Cataract 12. Ectopia lentis Section III. Genetic disorders affecting the posterior segment 13. Genetic disorders affecting the retina, choroid and RPE 14. Familial vitreoretinopathies 15. Genetic disorders affecting the optic nerve Section IV. Genetic disorders affecting both the anterior and posterior segment 16. Developmental eye disorders 17. Aniridia 18. Albinism Section V. Genetic disorders affecting ocular motility 19. Infantile nystagmus 20. Congenital cranial dysinnervation disorders 21. Progressive external ophthalmoplegia Section VI. Tumour predisposition syndromes 22. Phakomatoses 23. Naevoid basal cell carcinoma syndrome 24. Congenital hypertrophy of retinal pigment epithelium (CHRPE) 25. Retinoblastoma

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Author Information

Dr. Graeme Black, an internationally recognised authority on Genetic Ophthalmology, is Professor and Honorary Consultant of Genetics and Ophthalmology at the University of Manchester, England. Graeme’s major research focus is the molecular and phenotypic characterisation of inherited developmental disorders, aiming to improve diagnosis, management and treatment. He has >250 peer-reviewed publications. Graeme runs a busy supraregional clinical service and oversees the scientific team that provides accredited genomic testing for patients with ophthalmic disorders (2004-date). Concurrently, Graeme has held a number of key strategic clinical academic leadership positions (e.g Director, NIHR Manchester Biomedical Research Centre (2009-12), Manchester Institute of Human Development (2012-15), Manchester Centre for Genomic Medicine and North West England Genomic Laboratory Hub (2015-2021). Dr. Jane Ashworth is a Consultant Pediatric Ophthalmologist at Manchester Royal Eye Hospital and Honorary Professor at the University of Manchester. She has a busy clinical and surgical paediatric ophthalmology practice, with regular multidisciplinary subspecialty clinics in pediatric cataract, ophthalmic genetics, pediatric uveitis and metabolic disease. Jane has a major role in teaching and training as Head of School of Ophthalmology in Health Education England North West. Dr. Panagiotis (Panos) Sergouniotis is a Senior Lecturer and Consultant in Genetic Ophthalmology at the University of Manchester. His research involves working at the intersection of genomics, bioinformatics and clinical ophthalmology and his contributions span the translational spectrum from basic biology to implementation science. Panos runs the supraregional pediatric ophthalmic genetic clinic specialising in genetic disorders of the retina.

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