Genetic Diseases of the Eye

Hardcover | December 5, 2011

EditorElias I. Traboulsi

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This highly anticipated new edition brings together an expert group of authors to provide a comprehensive, systematic sourcebook on genetic diseases of the eye. This richly illustrated, full color text covers areas such as: malformations; refractive errors, the cornea, glaucoma and cataracts;retina and the optic nerve; eye movement disorders, and systemic disease of the eye. The new edition remains grounded in a sound clinical approach to the patient with a genetic disease that affects the eye.Each chapter emphasizes the clinical aspects of disease, tying them to the underlying molecular mechanisms and outlining current therapy. While the molecular underpinnings, testing methods and therapy of genetic disorders continues to evolve, the clinical aspects are well established and areemphasized in this book. A large number of color figures are utilized to illustrate the various chapters and provide an essential Atlas aspect to this publication. This book is a 'must have' for pediatric ophthalmologists, retina specialists, and geneticists.

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This highly anticipated new edition brings together an expert group of authors to provide a comprehensive, systematic sourcebook on genetic diseases of the eye. This richly illustrated, full color text covers areas such as: malformations; refractive errors, the cornea, glaucoma and cataracts;retina and the optic nerve; eye movement di...

Elias I. Traboulsi is Head of the Department of Pediatric Ophthalmology and the Director of the Center for Genetic Eye Diseases at The Cleveland Clinic Cole Eye Institute. He is Professor of Ophthalmology at the Cleveland Clinic Lerner College of Medicine of Case University and Director of the Ophthalmology Residency Program at the Cle...

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Format:HardcoverDimensions:944 pages, 11 × 8.5 × 0.98 inPublished:December 5, 2011Publisher:Oxford University PressLanguage:English

The following ISBNs are associated with this title:

ISBN - 10:0195326148

ISBN - 13:9780195326147

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Table of Contents

Section I: Malformations1. Olof H. Sundin: Embryology of the Eye and the Role of Developmental Genes*2. Kerstin Str"mland and Marilyn T. Miller: Teratogens and Ocular Malformations3. Craig Lewis, Katrinka L. Heher, James A. Katowitz, and Elias I. Traboulsi: Malformations of the Ocular Adnexae4. Eduardo Duarte Silva and Olof H. Sundin: Nanophthalmos5. Brian P. Brooks and Elias I. Traboulsi: Anophthalmia, Colobomatous, Microphthalmia and Optic Fissure Closure Defects6. Arif O. Khan: Cornea Pl7. James E. H. Smith and Elias I. Traboulsi: Malformations of the Anterior Segment of the Eye8. Reecha Sachdeva and Elias I. Traboulsi: Aniridia9. Brian P. Brooks and Elias I. Traboulsi: Congenital Anomalies of the Optic Nerve10. Arturo Santos and Elias I. Traboulsi: Congenital Abnormalities of the Retinal Pigment Epithelium11. Erin Broaddus, Donna Patno, Janet Reid, Jeffrey Chapa , Elias I. Traboulsi, and Arun D. Singh: Prenatal Imaging of the Eye and Ocular Adnexae12. Wadih M. Zein, Amy Feldman Lewanda, and Elias I. Traboulsi and Ethylin Wang Jabs: Ocular Manifestations of Syndromes with Craniofacial Abnormalities13. Soorath Noorani, Alex V. Levin, Matt Rusinek, Joanne E. Sutherland, and Anthony G. Quinn: Ocular Manifestations of Chromosomal AbnormalitiesSection II: Refractive Errors, Cornea, Glaucoma, and Cataracts14. Wadih M. Zein and Arlene V. Drack: Inheritance of Refractive Errors15. Walter Lisch, Elias I. Traboulsi, and Dimitri T. Azar: Corneal Dystrophies16. Marzena Gajecka: The Genetics of Keratoconus17. Roshanak Sharafieh, Anne H. Child, and Mansoor Sarfarazi: Molecular Genetics of Primary Congenital Glaucoma18. Anne H. Child, Filipe M. Pereira da Silva, Jose Aragon-Martin, Roshanak Sharafieh, and Mansoor Sarfarazi: Molecular Genetics of Primary Open Angle Glaucoma19. Madhavan Jagadeesan and Elise Hon: Genetics of Congenital CataractsSection III: Retina and Optic Nerve20. Luis Gabriel, Neal S. Peachey, and Janet S. Sunness: Retinal Function Testing and Genetic Disease21. Loh-Shan Bryan Leung, Vinod Babu Voleti, Jonathan H. Lin, and Stephen H. Tsang: Genetic Pathways in Retinal Degenerations and Targets for Therapy22. John W. Crabb: Proteomic Biomarkers for Age-Related Macular Degeneration23. Henry Ferreyra and John Heckenlively: Retinitis Pigmentosa24. Paul A. Sieving and Lucia Ziccardi: Juvenile Retinoschisis25. Susanne Kohl: Achromatopsia - Rod Monochromacy26. Elias I. Traboulsi: Cone Dysfunction Syndromes, Cone Dystrophies and Cone-Rod Degenerations27. Kean T. Oh and Kent Small: North Carolina Macular Dystrophy28. Bart P. Leroy: Bestrophinopathies29. Daniel F. Schorderet, Neena Haider, and Pascal Escher: NR2E3-Linked Retinal Degenerations: Enhanced S-Cone Sensitivity Syndrome (ESCS), Goldmann-Favre Syndrome (GFS), Clumped Pigmentary Retinal Degeneration (CPRD), And Retinitis Pigmentosa (RP)30. Samir S. Deeb and Arno G. Motulsky: Disorders of Color Vision31. Aimee V. Chappelow and Elias I. Traboulsi: Stargardt Disease32. Elias I. Traboulsi, Bart P. Leroy, and Christina Zeitz: Congenital Stationary Night Blindness33. Ian M. MacDonald and Miguel C. Seabra: Choroideremia34. Robert K. Koenekoop, Frans P.M. Cremers, Irma Lopez, and Anneke I. den Hollander: Leber Congenital Amaurosis: Clinical, Genetic and Therapeutic Perspectives35. Johane M. Robitaille, Duane L. Guernsey, and Elias I. Traboulsi: Familial Exudative Vitreoretinopathy (FEVR), Norrie Disease and Other Developmental Retinal Vascular Disorders36. Daniel F. Rosberger, Ravi D. Patel, and Elias I. Traboulsi: Hereditary Vitreoretinopathies37. Oluwatoyin Fafowora and Michael B. Gorin: Genetics of Age-related Maculopathy38. Kean T. Oh: Pattern Dystrophies of the RPE39. David A. Mackey: Hereditary Optic Neuropathies40. Ying Qian, Richard Alan Lewis, and Elias I. Traboulsi: Pigmentary Retinopathy in Systemic Inherited DiseaseSection IV: Eye Movement Disorders41. Shery Thomas and Irene Gottlob: The Genetics of Nystagmus and Associated Inherited Diseases42. Gena Heidary, Elias I. Traboulsi, and Elizabeth C. Engle: The Genetics of Strabismus and Associated DisordersSection V: Systemic Disease the Eye43. Elias I. Traboulsi and Suneel B. Apte: Ectopia Lentis and Associated Systemic Disease44. Mark E. Pennesi and Richard G. Weleber: Peroxisomal Disorders45. Reecha Sachdeva, Lisa S. Abrams, and Elias I. Traboulsi: Albinism46. Michelle M. Ariss, Nicola K. Ragge,Manikum Moodley, and Elias I. Traboulsi: The PhakomatosesSection VI: Cancer Genetics and the Eye47. Michelle M. Ariss, Elias I. Traboulsi, and Arun D. Singh: Systemic Associations of Eyelid Tumors48. Werner Wackernagel and Arun D. Singh: Genetic Aspects of Uveal Melanoma49. Emily Edelman, Rubens N. Belfort, Evelyn X. Fu, and Arun D. Singh: Genetics of RetinoblastomaPart VII: Treatment50. Joseph L. DeRose: Vision Rehabilitation of the Patient with Genetic Eye Disease51. Joanne E. Sutherland: Genetic Counseling for Genetic Eye Disorders52. Ben J. Kim and Nadia K. Waheed: Gene Therapy for Ocular Diseases