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Practical Genomics for Clinical Ophthalmology


BLACK et al. --- Neuerscheinung!!

Practical Genomics for Clinical Ophthalmology

496 Seiten, 1. Auflage, 2022
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In Practical Genomics for Clinical Ophthalmology, editors Jane Ashworth, Graeme Black, and Bart Leroy have brought together an expert group of international researchers and clinicians to provide in-depth coverage of clinical applications of genomics in eye disease, with key emphasis on case-study based instruction in patientcare and genetic counseling aspects, genetic and genomic diagnostics, and treatment pathways.

Here ophthalmologists and ophthalmology students, human geneticists, genetic counselors, and medical geneticists will find a single, full-color resource on current genetic and genomic testing techniques in ophthalmology, interpretation of genetic and genomic test results, best practices for delivery of results to patients and families, and ongoing research into therapeutics.

Disease specific chapters speak to clinical diagnosis and treatment of a wide range of conditions, including non-syndromic inherited retinal disease, syndromic IRD, vitreoretinopathies, lens abnormalities, corneal disease, albinism, anterior segment dysgenesis, glaucoma, developmental eye abnormalities, nystagmus, ocular motility disorders, optic neuropathies, phacomatoses, and retinoblastoma among others. Additionally, clinical case studies illustrate examples of common genetic eye disorders and highlight vital learning points for the reader.

Features:
  • Presents the work of leading international researchers and clinicians who speak in-depth on the clinical applications of genomics in diagnosis and treatment of eye disease
  • Provides full-color, richly illustrated chapters that cover current genetic and genomic testing methods employed in ophthalmology
  • Includes instructions on the diagnosis and treatment of a wide range of conditions, including non-syndromic inherited retinal disease, syndromic IRD, vitreoretinopathies, lens abnormalities, corneal disease, albinism, anterior segment dysgenesis, glaucoma, and more
  • Contains case studies that illustrate common genetic eye disorders and highlight vital learning points for the reader
Table of Contents
  • 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
  • 9. Genetic disorders affecting the cornea
  • 10. Anterior segment developmental disorders
  • 11. Cataract
  • 12. Ectopia lentis
  • 13. Genetic disorders affecting the retina, choroid and RPE
  • 14. Familial vitreoretinopathies
  • 15. Genetic disorders affecting the optic nerve
  • 16. Developmental eye abnormalities
  • 17. Aniridia
  • 18. Albinism
  • 19. Infantile nystagmus
  • 20. Congenital cranial dysinnervation disorders
  • 21. Progressive external ophthalmoplegia
  • 22. Phacomatoses
  • 23. Naevoid basal cell carcinoma syndrome
  • 24. Congenital hypertrophy of retinal pigment epithelium (CHRPE)
  • 25. Retinoblastoma

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