Full 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.
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
