Genetic Diseases of the Eye

by Elias I. Traboulsi, MD

• ISBN13: 9780195326147
• ISBN10: 0195326148
• Edition: 2nd
• Format: Hardcover
• Copyright: 2011-12-29
• Publisher: Oxford University Press

Summary

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.

Table of Contents

Malformations

Embryology of the Eye and the Role of Developmental Genes*

Teratogens and Ocular Malformations

Malformations of the Ocular Adnexae

Nanophthalmos

Anophthalmia, Colobomatous, Microphthalmia and Optic Fissure Closure Defects

Cornea P

Malformations of the Anterior Segment of the Eye

Aniridia

Congenital Anomalies of the Optic Nerve

Congenital Abnormalities of the Retinal Pigment Epithelium

Prenatal Imaging of the Eye and Ocular Adnexae

Ocular Manifestations of Syndromes with Craniofacial Abnormalities

Ocular Manifestations of Chromosomal Abnormalities

Refractive Errors, Cornea, Glaucoma, and Cataracts

Inheritance of Refractive Errors

Corneal Dystrophies

The Genetics of Keratoconus

Molecular Genetics of Primary Congenital Glaucoma

Molecular Genetics of Primary Open Angle Glaucoma

Genetics of Congenital Cataracts

Retina and Optic Nerve

Retinal Function Testing and Genetic Disease

Genetic Pathways in Retinal Degenerations and Targets for Therapy

Proteomic Biomarkers for Age-Related Macular Degeneration

Retinitis Pigmentosa

Juvenile Retinoschisis

Achromatopsia - Rod Monochromacy

Cone Dysfunction Syndromes, Cone Dystrophies and Cone-Rod Degenerations

North Carolina Macular Dystrophy

Bestrophinopathies

NR2E3-Linked Retinal Degenerations: Enhanced S-Cone Sensitivity Syndrome (ESCS), Goldmann-Favre Syndrome (GFS), Clumped Pigmentary Retinal Degeneration (CPRD), And Retinitis Pigmentosa (RP)

Disorders of Color Vision

Stargardt Disease

Congenital Stationary Night Blindness

Choroideremia

Leber Congenital Amaurosis: Clinical, Genetic and Therapeutic Perspectives

Familial Exudative Vitreoretinopathy (FEVR), Norrie Disease and Other Developmental Retinal Vascular Disorders

Hereditary Vitreoretinopathies

Genetics of Age-related Maculopathy

Pattern Dystrophies of the RPE

Hereditary Optic Neuropathies

Pigmentary Retinopathy in Systemic Inherited Disease

Eye Movement Disorders

The Genetics of Nystagmus and Associated Inherited Diseases

The Genetics of Strabismus and Associated Disorders

Systemic Disease the Eye

Ectopia Lentis and Associated Systemic Disease

Peroxisomal Disorders

Albinism

The Phakomatoses

Cancer Genetics and the Eye

Systemic Associations of Eyelid Tumors

Genetic Aspects of Uveal Melanoma

Genetics of Retinoblastoma

Treatment

Vision Rehabilitation of the Patient with Genetic Eye Disease

Genetic Counseling for Genetic Eye Disorders

Gene Therapy for Ocular Diseases

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