Genetic Diseases of the Eye
Series: Oxford Monographs on Medical Genetics;
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Product details:
- Edition number 3
- Publisher OUP USA
- Date of Publication 14 November 2025
- ISBN 9780197659403
- Binding Hardback
- No. of pages1176 pages
- Size 279x216 mm
- Language English
- Illustrations 600 Color Images 700
Categories
Short description:
This new edition continues to assemble the visionary work and technology that contributors from around the world have accomplished in this exciting field. In addition to updating all 52 original chapters, this 3rd edition contains Contains new chapters covering epidemiology and counseling, vision rehabilitation, embryology and development, genetics of eye conditions, diagnostic and imaging techniques, specific genetic disorders, and patient-reported outcomes. These new chapters provide comprehensive insights into the latest advancements and methodologies in the field; this last chapter to delve into basic genetic counseling. These updates and additions will continue to make Genetic Diseases of the Eye the most important reference for students, specialists, and clinical researchers in the fields of genetics and ophthalmology.
MoreLong description:
This highly anticipated third edition brings together an expert group of authors to provide a comprehensive, systematic resource on genetic diseases of the eye. The richly illustrated volume covers every area in ophthalmology such as: malformations, refractive errors, the cornea, glaucoma and cataracts, retina and the optic nerve, eye movement disorders, systemic diseases of the eye, and more. What remains at the core of the book is a sound clinical approach to the patient with genetic diseases that affects the eye. Every chapter emphasizes the clinical aspects of diseases and ties them to underlying molecular mechanisms and outlines current therapy.
This new edition continues to assemble the visionary work and technology that contributors from around the world have accomplished in this exciting field. In addition to updating all 52 original chapters, this 3rd edition contains Contains new chapters covering epidemiology and counseling, vision rehabilitation, embryology and development, genetics of eye conditions, diagnostic and imaging techniques, specific genetic disorders, and patient-reported outcomes. These new chapters provide comprehensive insights into the latest advancements and methodologies in the field; this last chapter to delve into basic genetic counseling. These updates and additions will continue to make Genetic Diseases of the Eye the most important reference for students, specialists, and clinical researchers in the fields of genetics and ophthalmology.
Table of Contents:
Contributors
Chapter 1: Epidemiology and World View of Genetic Eye Disease
David A. Mackey
Chapter 2: Genetic Counseling for Inherited Eye Disorders
Joanne E. Sutherland, Alexandria Haseley, & Meghan J. DeBenedictis
Chapter 3: Breaking Bad News
Moriah Edwards & Diana Brightman
Chapter 4: Vision Rehabilitation of the Patient with Genetic Eye Disorder
Kelly Lusk & Terry Schwartz
Chapter 5: Embryology and Development of the Eye
Robert B. Hufnagel
Chapter 6: Malformations of the Ocular Adnexae
Jessica Crawford, Cameron B. Nabavi, Elias I. Traboulsi, & Jill A. Foster
Chapter 7: Nanophthalmos
Eduardo Duarte Silva
Chapter 8: Anophthalmia, Colobomatous Microphthalmia, and Optic Fissure Closure Defects
Matthew D. Benson, Elias I. Traboulsi, & Brian P. Brooks
Chapter 9: Cornea Plana
Arif O. Khan
Chapter 10: Malformations of the Anterior Segment of the Eye
James E.H. Smith, Elias I. Traboulsi, & Janey L. Wiggs
Chapter 11: Aniridia and PAX6
Robert B. Hufnagel, Reecha S. Bahl, & Elias I. Traboulsi
Chapter 12: Congenital Anomalies of the Optic Nerve
Matthew D. Benson, Elias I. Traboulsi, & Brian P. Brooks
Chapter 13: Congenital Abnormalities of the Retinal Pigment Epithelium
Megan S. Steinkerchner, Arturo Santos, Morton F. Goldberg, & Elias I. Traboulsi
Chapter 14: Prenatal Imaging of Eye and Ocular Adnexa
Saloni Kapoor, Olivia W. Foley, & Arun D. Singh
Chapter 15: Ocular Manifestations of Syndromes with Craniofacial Abnormalities
Nasrine Anais El-Salloukh & Elias I. Traboulsi
Chapter 16: Ocular Manifestations of Chromosomal Abnormalities
Lorena M. Haefeli, Sorath Noorani Siddiqui, & Alex V. Levin
Chapter 17: Clinical Diagnosis of the Child with a Syndrome that Includes Ocular Anomalies
Onochie Ike Okoye & Alex V Levin
Chapter 18: Corneal Dystrophies
Walter Lisch, Elias I. Traboulsi, Natalie A Afshari, & Dimitri T. Azar
Chapter 19: The Genetics of Keratoconus and Related Diseases
Katarzyna Jaskiewicz & Marzena Gajecka
Chapter 20: Genetics of Primary Congenital Glaucoma
Arif O. Khan
Chapter 21: Molecular Genetics of Juvenile and Adult-Onset Primary Open Angle Glaucoma
Mansoor Sarfarazi
Chapter 22: Genetics of Cataract
Alaa Tayyib, Madhavan Jagadeesan, & Elise H
