Genetic Diseases of the Eye

Genetic Diseases of the Eye

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Description

This authoritative reference work is both comprehensive and practical. It deals with ocular development and malformations, hereditary diseases of the cornea and anterior segment, retina, and optic nerve, inherited systemic diseases that affect the eye, heritable ocular tumors, and general management issues in ophthalmic genetics. It addresses the clinical aspects, molecular genetics and management of inherited disorders as well as more basic topics like ocular embryology and the role of developmental genes, color vision and electrophysiologic testing in retinal disorders. The management of the patient with low vision from an inherited eye disease is also covered. The chapters are heavily referenced and include almost 500 illustrations, many in color, of common and less common conditions. Ophthalmologists, geneticists, pediatricians and internists who care for patients with inherited eye diseases will find this book a valuable addition to their personal library and a handy reference and atlas. The authors and editors of Genetic Diseases of the Eye have tried to present the subject matter in a comprehensive, yet practical manner. The book is divided in sections on ocular development and malformations, hereditary diseases of the cornea and anterior segment, retina, and optic nerve, inherited systemic diseases that affect the eye, heritable ocular tumors, and general management issues in ophthalmic genetics. Some authors address the clinical aspects, molecular genetics and management of the disorders covered in their individual chapters. Others discuss in depth topics such as ocular embryology and the role of developmental genes, color vision, electrophysiologic testing in retinal disorders, or the management of the patient with low vision from an inherited eye disease. The chapters are heavily referenced to assist the readers who are interested in obtaining more details on their topic of interest. More than 500 illustrations, many of which in color, provide the reader with examples of the common and less common conditions covered in the book. Ophthalmologists, geneticists, pediatricians and internists who take care of patients with inherited diseases will find this book a useful addition to their personal library and a handy reference and atlas.show more

Product details

  • Hardback | 916 pages
  • 175.3 x 254 x 45.7mm | 1,859.75g
  • Oxford University Press Inc
  • New York, United States
  • English
  • numerous colour and black and white illustrations
  • 0195096762
  • 9780195096767

Table of contents

1. Embriology of the Eye and the Role of Developmental Genes; 2. Malformations of the Ocular Adnexae; 3. Surgical Management of the Patient with Ocular Adnexal Malformations; 4. Colobomatous Microphthalmia, Anophthalmia and Associated Malformation Syndromes; 5. Malformations of the Anterior Segment of the Eye; 6. Aniridia; 7. Congenital Anomalies of the Optic Nerve Head; 8. Congenital Abnormalities of the Retinal Pigment Epithelium; 9. Inheritance of Refractive Errors; 10. Congenital Glaucoma; 11. Genetics of Open Angle Glaucoma; 12. Cataracts; 13. Corneal Dystrophies; 14. Keratoconus; 15. Retinal Function Testing and Genetic Disease; 16. Disorders of Color Vision; 17. Retinitis Pigmentosa; 18. Juvenile Retinoschisis; 19. Cone Dystrophies; 20. North Carolina Macular Dystrophy (MCDR1); 21. Leber's Congenital Amaurosis, Stargardt Disease and Pattern Dystrophies; 22. Congenital Stationary Night Blindness; 23. Choroideremia; 24. Genetics of Age-Related Maculopathy; 25. Hereditary Vitreoretinopathies; 26. Optic Atrophy; 27. The Genetics of Strabismus: Duane, Mobius and Fibrosis Syndrome; 28. Congenital Nystagmus; 29. Blephroptosis; 30. Ocular Manifestations of Chromosomal Abnormalities; 31. Subluxation of the Crystalline Lens and Associated Systematic Disease; 32. Pigmentary Retinopathy and Systematic Disease; 33. Peroxisomal Disorders; 34. Albinism; 35. Mitochondrial Diseases; 36. The Phakomatoses; 37. Syndromes with Craniofacial Abnormalities; 38. Norrie Disease; 39. Genetic Aspects of Uveal Melanoma; 40. Retinoblastoma; 41. Vision Rehabilitation of the Patient with Genetic Eye Diseaseshow more

About Elias I. Traboulsi

Elias I. Traboulsi, M.D, is Head of Pediatric Ophthalmology and Strabismus and Director of the Center for Genetic Eye Diseases at the Cleveland Clinic Foundation.show more