Graeme C.M. Black,
Jane L. Ashworth,
Panagiotis I. Sergouniotis
Elsevier Science
e druk, 2022
9780128139448
Clinical Ophthalmic Genetics and Genomics
Specificaties
Paperback, blz.
|
Engels
Elsevier Science |
e druk, 2022
ISBN13: 9780128139448
Rubricering
Levertijd ongeveer 8 werkdagen
Samenvatting
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.
Specificaties
Inhoudsopgave
<p>Section I. Genomics and the eye<br>1. Genetic disorders and genetic variants<br>2. Genetic testing techniques<br>3. Genetic variant interpretation<br>4. Genetic counselling and family support<br>5. Syndromic conditions and the eye<br>6. Ophthalmic phenotyping. Electrophysiology<br>7. Ophthalmic phenotyping. Imaging<br>8. Gene therapy and treatment trials</p> <p>Section II. Genetic disorders affecting the anterior segment<br>9. Genetic disorders affecting the cornea<br>10. Anterior segment developmental disorders<br>11. Cataract<br>12. Ectopia lentis</p> <p>Section III. Genetic disorders affecting the posterior segment<br>13. Genetic disorders affecting the retina, choroid and RPE<br>14. Familial vitreoretinopathies<br>15. Genetic disorders affecting the optic nerve</p> <p>Section IV. Genetic disorders affecting both the anterior and posterior segment<br>16. Developmental eye disorders<br>17. Aniridia<br>18. Albinism</p> <p>Section V. Genetic disorders affecting ocular motility<br>19. Infantile nystagmus<br>20. Congenital cranial dysinnervation disorders<br>21. Progressive external ophthalmoplegia</p> <p>Section VI. Tumour predisposition syndromes<br>22. Phakomatoses<br>23. Naevoid basal cell carcinoma syndrome<br>24. Congenital hypertrophy of retinal pigment epithelium (CHRPE)<br>25. Retinoblastoma</p>