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

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      Book details

      Publisher Academic Press Inc
      Published 20 January 2022
      ISBN-13 9780128139448
      978-0128139448
      ISBN-10 0128139447
      Also in:
      Medical genetics 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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