Genetic Diseases of the Eye, Second Edition


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 ...

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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 are emphasized 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. New to this edition: - Several chapters have been dedicated to individual disorders, especially the retinal dystrophies, whose molecular genetic basis has been elucidated in the last decade or so. - A large chapter on genetic counseling has been added to the book that is case and family-based and provides a practical approach to counseling patients and families with inherited eye diseases. - A new chapter on the genetics of age-related macular degeneration and on proteomics as applies to age-related macular degeneration adds a new dimension to this book. - A new chapter on teratogens and ocular malformations by Kirstin Stromland, one of the world leaders in this field. - A new section on cancer genetics and the eye - New chapters on ocular imaging and gene therapy for inherited eye diseases. Features This book is a market leader in the field. Competition is out- of-date Written by leading experts Extrem

"Authoritative, comprehensive, and practical, every chapter is heavily referenced and includes abundant illustrations that provide examples of both common and less common conditions."

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Editorial Reviews

Doody's Review Service
Reviewer: Jordana Smith, MD (Children's Memorial Hospital)
Description: This review was written by Jordana Smith, MD, and Marilyn Mets, MD (Children's Memorial Hospital).

This is the second edition of a comprehensive review of ophthalmic genetic disorders and their associated clinical findings, including their genetic foundation, diagnostic workup, and management options. The varied individual genetic causes of ocular manifestations and diagnoses are reviewed and correlated with OMIM data and updated basic science data. This a needed update of the 1999 edition.
Purpose: The purpose is to provide an update on the exponentially increasing field of genetics as it relates to ophthalmic approach to, diagnosis, and management of the patient with a genetic disorder. This field is rapidly growing and deserves to be readdressed because of the substantial increase in knowledge of both the genetic basis for disease and the molecular function of the genes themselves as they relate to the field of ophthalmology.
Audience: Edited by an authority on ocular genetics, this book is targeted at ophthalmic physicians for whom genetic basis of disease is a particular interest. It also serves as a resource for residents and fellows.
Features: The book reviews the spectrum of ophthalmic manifestations of genetic disease, covering malformations, anterior and posterior segment disorders, eye movement abnormalities, and systemic associations. There is also a section on cancer genetics. The portion on retinal and optic nerve disease is exceptionally comprehensive, providing a review of clinical syndromes with a discussion of separate causative genes, clinical diagnosis including electrophysiology, and outstanding photography. Fundus photos, intravenous fluorescein angiography, ocular coherence tomography, electrophysiology testing, and molecular diagrams are integrated into the text with extraordinary ease.
Assessment: Dr. Traboulsi manages to flawlessly integrate the expanding knowledge of individual genes and their molecular functions with the evolving understanding of the clinical syndromes to which they are linked.
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Product Details

  • ISBN-13: 9780195326147
  • Publisher: Oxford University Press
  • Publication date: 12/29/2011
  • Series: Oxford Monographs on Medical Genetics Series, #13
  • Edition number: 2
  • Pages: 994
  • Product dimensions: 9.00 (w) x 11.20 (h) x 2.20 (d)

Meet the Author

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 Cleveland Clinic Foundation. He also serves as Vice-Chairman for Education at the Cole Eye Institute and Chairman of Graduate Medical Education at the Cleveland Clinic. He is Past President of The International Society for Genetic Eye Diseases and Retinoblastoma and its current executive vice-president. He has been the Editor-In-Chief of Ophthalmic Genetics sine 1992. He has authored more than 300 scientific articles and book chapters.

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Table of Contents

Section I: Malformations

1: Embryology of the Eye and the Role of Developmental Genes*
Olof H. Sundin

2: Teratogens and Ocular Malformations
Kerstin Strömland and Marilyn T. Miller

3: Malformations of the Ocular Adnexae
Craig Lewis, Katrinka L. Heher, James A. Katowitz, and Elias I. Traboulsi

4: Nanophthalmos
Eduardo Duarte Silva and Olof H. Sundin

5: Anophthalmia, Colobomatous, Microphthalmia and Optic Fissure Closure Defects
Brian P. Brooks and Elias I. Traboulsi

6: Cornea Plana
Arif O. Khan

7: Malformations of the Anterior Segment of the Eye
James E. H. Smith and Elias I. Traboulsi

8: Aniridia
Reecha Sachdeva and Elias I. Traboulsi

9: Congenital Anomalies of the Optic Nerve
Brian P. Brooks and Elias I. Traboulsi

10: Congenital Abnormalities of the Retinal Pigment Epithelium
Arturo Santos and Elias I. Traboulsi

11: Prenatal Imaging of the Eye and Ocular Adnexae
Erin Broaddus, Donna Patno, Janet Reid, Jeffrey Chapa , Elias I. Traboulsi, and
Arun D. Singh

12: Ocular Manifestations of Syndromes with Craniofacial Abnormalities
Wadih M. Zein, Amy Feldman Lewanda, and Elias I. Traboulsi
Ethylin Wang Jabs

13: Ocular Manifestations of Chromosomal Abnormalities
Soorath Noorani, Alex V. Levin, Matt Rusinek, Joanne E. Sutherland, and Anthony G. Quinn

Section II: Refractive Errors, Cornea, Glaucoma, and Cataracts

14: Inheritance of Refractive Errors
Wadih M. Zein and Arlene V. Drack

15: Corneal Dystrophies
Walter Lisch, Elias I. Traboulsi, and Dimitri T. Azar

16: The Genetics of Keratoconus
Marzena Gajecka

17: Molecular Genetics of Primary Congenital Glaucoma
Roshanak Sharafieh, Anne H. Child, and Mansoor Sarfarazi

18. Molecular Genetics of Primary Open Angle Glaucoma
Anne H. Child, Filipe M. Pereira da Silva, Jose Aragon-Martin, Roshanak Sharafieh, and Mansoor Sarfarazi

19: Genetics of Congenital Cataracts
Madhavan Jagadeesan and Elise Héon

Section III: Retina and Optic Nerve

20: Retinal Function Testing and Genetic Disease
Luis Gabriel, Neal S. Peachey, and Janet S. Sunness

21: Genetic Pathways in Retinal Degenerations and Targets for Therapy
Loh-Shan Bryan Leung, Vinod Babu Voleti, Jonathan H. Lin, and Stephen H. Tsang

22: Proteomic Biomarkers for Age-Related Macular Degeneration
John W. Crabb

23: Retinitis Pigmentosa
Henry Ferreyra and John Heckenlively

24: Juvenile Retinoschisis
Paul A. Sieving and Lucia Ziccardi

25: Achromatopsia - Rod Monochromacy
Susanne Kohl

26: Cone Dysfunction Syndromes, Cone Dystrophies and Cone-Rod Degenerations
Elias I. Traboulsi

27: North Carolina Macular Dystrophy
Kean T. Oh and Kent Small

28: Bestrophinopathies
Bart P. Leroy

29: NR2E3-Linked Retinal Degenerations: Enhanced S-Cone Sensitivity Syndrome (ESCS), Goldmann-Favre Syndrome (GFS), Clumped Pigmentary Retinal Degeneration (CPRD), And Retinitis Pigmentosa (RP)
Daniel F. Schorderet, Neena Haider, and Pascal Escher

30: Disorders of Color Vision
Samir S. Deeb and Arno G. Motulsky

31: Stargardt Disease
Aimee V. Chappelow and Elias I. Traboulsi

32: Congenital Stationary Night Blindness
Elias I. Traboulsi, Bart P. Leroy, and Christina Zeitz

33: Choroideremia
Ian M. MacDonald and Miguel C. Seabra

34: Leber Congenital Amaurosis: Clinical, Genetic and Therapeutic Perspectives
Robert K. Koenekoop, Frans P.M. Cremers, Irma Lopez, and Anneke I. den Hollander

35: Familial Exudative Vitreoretinopathy (FEVR), Norrie Disease and Other Developmental Retinal Vascular Disorders
Johane M. Robitaille, Duane L. Guernsey, and Elias I. Traboulsi

36: Hereditary Vitreoretinopathies
Daniel F. Rosberger, Ravi D. Patel, and Elias I. Traboulsi

37: Genetics of Age-related Maculopathy
Oluwatoyin Fafowora and Michael B. Gorin

38: Pattern Dystrophies of the RPE
Kean T. Oh

39: Hereditary Optic Neuropathies
David A. Mackey

40: Pigmentary Retinopathy in Systemic Inherited Disease
Ying Qian, Richard Alan Lewis, and Elias I. Traboulsi

Section IV: Eye Movement Disorders

41: The Genetics of Nystagmus and Associated Inherited Diseases
Shery Thomas and Irene Gottlob

42: The Genetics of Strabismus and Associated Disorders
Gena Heidary, Elias I. Traboulsi, and Elizabeth C. Engle

Section V: Systemic Disease the Eye

43: Ectopia Lentis and Associated Systemic Disease
Elias I. Traboulsi and Suneel B. Apte

44: Peroxisomal Disorders
Mark E. Pennesi and Richard G. Weleber

45: Albinism
Reecha Sachdeva, Lisa S. Abrams, and Elias I. Traboulsi

46: The Phakomatoses
Michelle M. Ariss, Nicola K. Ragge,Manikum Moodley, and Elias I. Traboulsi

Section VI: Cancer Genetics and the Eye

47: Systemic Associations of Eyelid Tumors
Michelle M. Ariss, Elias I. Traboulsi, and Arun D. Singh

48: Genetic Aspects of Uveal Melanoma
Werner Wackernagel and Arun D. Singh

49: Genetics of Retinoblastoma
Emily Edelman, Rubens N. Belfort, Evelyn X. Fu, and Arun D. Singh

Part VII: Treatment

50: Vision Rehabilitation of the Patient with Genetic Eye Disease
Joseph L. DeRose

51: Genetic Counseling for Genetic Eye Disorders
Joanne E. Sutherland

52: Gene Therapy for Ocular Diseases
Ben J. Kim and Nadia K. Waheed

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