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.
1. Title of Book - p. i 2. Cover image - p. i 3. Title page - p. ii 4. Table of Contents - p. iii 5. Copyright - p. iii 6. Contributors - p. xi 7. Preface - p. xiv 8. Section I: Genomics and the eye - p. xiv 9. Chapter 1. Genetic disorders and genetic variants - p. 1 10. Chapter 2. Genetic testing techniques - p. 7 11. Chapter 3. Genetic variant interpretation - p. 13 12. Chapter 4. Genetic counselling and family support - p. 21 13. Chapter 5. Syndromic conditions and the eye - p. 25 14. Chapter 6. Ophthalmic phenotyping: Electrophysiology - p. 33 15. Chapter 7. Ophthalmic phenotyping: Imaging - p. 53 16. Chapter 8. Gene therapy and treatment trials - p. 63 17. Section II: Genetic disorders affecting the anterior segment - p. 66 18. Chapter 9. Genetic disorders affecting the cornea - p. 67 19. Chapter 10. Anterior segment developmental disorders - p. 101 20. Chapter 11. Cataract - p. 129 21. Chapter 12. Ectopia lentis - p. 147 22. Section III: Genetic disorders affecting the posterior segment - p. 158 23. Chapter 13. Genetic disorders affecting the retina, choroid and RPE - p. 158 24. Chapter 13A. Genetic disorders causing non-syndromic retinopathy - p. 231 25. Chapter 13B. Syndromic retinal disease - p. 267 26. Chapter 14. Familial vitreoretinopathies - p. 323 27. Chapter 15. Genetic disorders affecting the optic nerve - p. 355 28. Section IV: Genetic disorders affecting both the anterior and posterior segment - p. 375 29. Chapter 16. Developmental eye disorders - p. 377 30. Chapter 17. Aniridia - p. 389 31. Chapter 18. Albinism - p. 393 32. Section V: Genetic disorders affecting ocular motility - p. 402 33. Chapter 19. Infantile nystagmus - p. 403 34. Chapter 20. Congenital cranial dysinnervation disorders - p. 407 35. Chapter 21. Progressive external ophthalmoplegia - p. 425 36. Section VI: Tumour predisposition syndromes - p. 428 37. Chapter 22. Phakomatoses - p. 429 38. Chapter 23. Naevoid basal cell carcinoma syndrome - p. 449 39. Chapter 24. Congenital hypertrophy of retinal pigment epithelium (CHRPE) - p. 453 40. Chapter 25. Retinoblastoma - p. 457 41. Index - p. 465 42. Index of Genes - p. 471
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.
1. Title of Book - p. i 2. Cover image - p. i 3. Title page - p. ii 4. Table of Contents - p. iii 5. Copyright - p. iii 6. Contributors - p. xi 7. Preface - p. xiv 8. Section I: Genomics and the eye - p. xiv 9. Chapter 1. Genetic disorders and genetic variants - p. 1 10. Chapter 2. Genetic testing techniques - p. 7 11. Chapter 3. Genetic variant interpretation - p. 13 12. Chapter 4. Genetic counselling and family support - p. 21 13. Chapter 5. Syndromic conditions and the eye - p. 25 14. Chapter 6. Ophthalmic phenotyping: Electrophysiology - p. 33 15. Chapter 7. Ophthalmic phenotyping: Imaging - p. 53 16. Chapter 8. Gene therapy and treatment trials - p. 63 17. Section II: Genetic disorders affecting the anterior segment - p. 66 18. Chapter 9. Genetic disorders affecting the cornea - p. 67 19. Chapter 10. Anterior segment developmental disorders - p. 101 20. Chapter 11. Cataract - p. 129 21. Chapter 12. Ectopia lentis - p. 147 22. Section III: Genetic disorders affecting the posterior segment - p. 158 23. Chapter 13. Genetic disorders affecting the retina, choroid and RPE - p. 158 24. Chapter 13A. Genetic disorders causing non-syndromic retinopathy - p. 231 25. Chapter 13B. Syndromic retinal disease - p. 267 26. Chapter 14. Familial vitreoretinopathies - p. 323 27. Chapter 15. Genetic disorders affecting the optic nerve - p. 355 28. Section IV: Genetic disorders affecting both the anterior and posterior segment - p. 375 29. Chapter 16. Developmental eye disorders - p. 377 30. Chapter 17. Aniridia - p. 389 31. Chapter 18. Albinism - p. 393 32. Section V: Genetic disorders affecting ocular motility - p. 402 33. Chapter 19. Infantile nystagmus - p. 403 34. Chapter 20. Congenital cranial dysinnervation disorders - p. 407 35. Chapter 21. Progressive external ophthalmoplegia - p. 425 36. Section VI: Tumour predisposition syndromes - p. 428 37. Chapter 22. Phakomatoses - p. 429 38. Chapter 23. Naevoid basal cell carcinoma syndrome - p. 449 39. Chapter 24. Congenital hypertrophy of retinal pigment epithelium (CHRPE) - p. 453 40. Chapter 25. Retinoblastoma - p. 457 41. Index - p. 465 42. Index of Genes - p. 471
