Description

Book Synopsis


Table of 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

Clinical Ophthalmic Genetics and Genomics

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Order before 4pm today for delivery by Sat 20 Dec 2025.

A Paperback / softback by Graeme C.M. Black, Jane L. Ashworth, Panagiotis I. Sergouniotis

10 in stock


    View other formats and editions of Clinical Ophthalmic Genetics and Genomics by Graeme C.M. Black

    Publisher: Elsevier Science Publishing Co Inc
    Publication Date: 20/01/2022
    ISBN13: 9780128139448, 978-0128139448
    ISBN10: 0128139447
    Also in:
    Medical genetics Science & Nature Genetics (non-medical)

    Description

    Book Synopsis


    Table of 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

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