Description
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
Table of Contents
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
