Clinical Ophthalmic Genetics and Genomics

Häftad, Engelska, 2022

AvGraeme C.M. Black,Jane L. Ashworth,Panagiotis I. Sergouniotis

2 539 kr

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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 guidance on the complete spectrum of genetic ophthalmic disorders from leading international clinicians and researchers
Well-organised with streamlined, templated chapters and a user-friendly layout that provides quick access to clinically relevant information, and is designed to help ophthalmologists, geneticists, and genetic counsellors in the clinic room

Produktinformation

Utgivningsdatum2022-01-20
Mått216 x 276 x 32 mm
Vikt1 540 g
FormatHäftad
SpråkEngelska
Antal sidor496
FörlagElsevier Science
ISBN9780128139448

Tillhör följande kategorier

Medicinsk genetik inom Medicin
Oftalmologi inom Medicin

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.

Section I. Genomics and the eye1. Genetic disorders and genetic variants2. Genetic testing techniques3. Genetic variant interpretation4. Genetic counselling and family support5. Syndromic conditions and the eye6. Ophthalmic phenotyping. Electrophysiology7. Ophthalmic phenotyping. Imaging8. Gene therapy and treatment trialsSection II. Genetic disorders affecting the anterior segment9. Genetic disorders affecting the cornea10. Anterior segment developmental disorders11. Cataract12. Ectopia lentisSection III. Genetic disorders affecting the posterior segment13. Genetic disorders affecting the retina, choroid and RPE14. Familial vitreoretinopathies15. Genetic disorders affecting the optic nerveSection IV. Genetic disorders affecting both the anterior and posterior segment16. Developmental eye disorders17. Aniridia18. AlbinismSection V. Genetic disorders affecting ocular motility19. Infantile nystagmus20. Congenital cranial dysinnervation disorders21. Progressive external ophthalmoplegiaSection VI. Tumour predisposition syndromes22. Phakomatoses23. Naevoid basal cell carcinoma syndrome24. Congenital hypertrophy of retinal pigment epithelium (CHRPE)25. Retinoblastoma