Genetic Diseases of the Eye

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 seven new chapters on: the history of ophthalmic genetics, epidemiology and world view of genetic eye disease, basic genetic principles, imaging, guide to testing modalities and interpretation, visual rehabilitation of the pediatric and adult patient, and delivering bad news; 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.

List 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, and Meghan J. DeBenedictis


• Chapter 3: Breaking Bad News


• Moriah Edwards and Diana Brightman


• Chapter 4: Vision Rehabilitation of the Patient with Genetic Eye Disorder


• Kelly Lusk and 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, and 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, and 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, and Janey L. Wiggs


• Chapter 11: Aniridia and PAX6


• Robert B. Hufnagel, Reecha S. Bahl, and Elias I. Traboulsi


• Chapter 12: Congenital Anomalies of the Optic Nerve


• Matthew D. Benson, Elias I. Traboulsi, and Brian P. Brooks


• Chapter 13: Congenital Abnormalities of the Retinal Pigment Epithelium


• Megan S. Steinkerchner, Arturo Santos, Morton F. Goldberg, and Elias I. Traboulsi


• Chapter 14: Prenatal Imaging of Eye and Ocular Adnexa


• Saloni Kapoor, Olivia W. Foley, and Arun D. Singh


• Chapter 15: Ocular Manifestations of Syndromes with Craniofacial Abnormalities


• Nasrine Anais El-Salloukh and Elias I. Traboulsi


• Chapter 16: Ocular Manifestations of Chromosomal Abnormalities


• Lorena M. Haefeli, Sorath Noorani Siddiqui, and Alex V. Levin


• Chapter 17: Clinical Diagnosis of the Child with a Syndrome that Includes Ocular Anomalies


• Onochie Ike Okoye and Alex V Levin


• Chapter 18: Corneal Dystrophies


• Walter Lisch, Elias I. Traboulsi, Natalie A Afshari, and Dimitri T. Azar


• Chapter 19: The Genetics of Keratoconus and Related Diseases


• Katarzyna Jaskiewicz and 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, and Elise Héon


• Chapter 23: Molecular Genetics of Closed Angle Glaucoma


• Elise Héon, Kavin Selvan, Alaa Tayyib, and Ajoy Vincent


• Chapter 24: Electrophysiological Testing in Genetic Eye Disease


• Rebecca M. Schur, Neal S. Peachey, and Alex Yuan


• Chapter 25: Electroretinography in Children


• Wanda L. Pfeifer and Arlene V. Drack


• Chapter 26: Genetic Pathways in Inherited Retinal Disorders and Targets for Therapy


• Ashley Z. Zhou, Esra Sahli, Laura A. Jenny, Jinjie Ling, and Stephen H. Tsang


• Chapter 27: Imaging in Inherited Retinal Dystrophies


• Matthew W. Russell, Elias I. Traboulsi, and Justis P. Ehlers


• Chapter 28: Imaging in Congenital and Genetic Optic Nerve Anomalies


• Tais Estrela, Nathan Troy Tagg, and Mays El-Dairi


• Chapter 29: Retinitis Pigmentosa


• David G. Birch and Abigail Fahim


• Chapter 30: Juvenile Retinoschisis


• Lucia Ziccardi and Paul A. Sieving


• Chapter 31: Achromatopsia-Rod Monochromacy


• Susanne Kohl, Stylianos Michalakis, and Katarina Stingl


• Chapter 32: Cone Dysfunction Syndromes, Cone Dystrophies, and Cone-Rod Degenerations


• Sarah Hull and Elias Traboulsi


• Chapter 33: North Carolina Macular Dystrophy (NCMD/MCDR1/MCDR3/PRDM13/IRX1), Progressive Bifocal Chorioretinal Atrophy (PBCRA), and Congenital Posterior Polar Chorioretinal Hypoplasia (CPPCRH)


• Kent Small and Fadi Shaya


• Chapter 34: Bestrophinopathies


• Filip Van den Broeck and Bart P. Leroy


• Chapter 35: NR2E3-Linked Retinal Degenerations: Enhanced S-Cone Sensitivity Syndrome, Goldmann-Favre Syndrome, Clumped Pigmentary Retinal Degeneration, and Retinitis Pigmentosa


• Pascal Escher


• Chapter 36: Disorders of Color Vision


• Maureen Neitz and Jay Neitz


• Chapter 37: Stargardt Disease (ABCA4-associated Retinopathies)


• Virginia Miraldi Utz and Elias I. Traboulsi


• Chapter 38: Congenital Stationary Night Blindness


• Christina Zeitz and Isabelle Audo


• Chapter 39: Choroideremia


• Ian M. MacDonald, Fay Zhai, Manlong Xu, Alina Radziwon, and Miguel Seabra


• Chapter 40: Leber Congenital Amaurosis and Early-Onset Severe Inherited Retinal Degenerations: Clinical, Genetic, and Therapeutic Perspectives


• Tomas S. Aleman and Robert K. Koenekoop


• Chapter 41: Norrie Disease, Familial Exudative Vitreoretinopathy, and Other Developmental Retinal Vascular Disorders


• Johane M. Robitaille


• Chapter 42: Pattern Dystrophies of the RPE


• Kevin C. Allan and Alex Yuan


• Chapter 43: Hereditary Optic Neuropathies


• Veeral S. Shah, Razek Coussa, and Elias I. Traboulsi


• Chapter 44: The Genetics of Infantile Nystagmus and Associated Inherited Diseases


• Veeral S. Shah, Elias I. Traboulsi, and Irene Gottlob


• Chapter 45: The Genetics of Strabismus and Associated Disorders


• Mary C. Whitman, Gena Heidary, Elias I. Traboulsi, and Elizabeth C. Engle


• Chapter 46: Mitochondrial Inherited Primary Retinopathies and Optic Neuropathies


• Razek Georges Coussa, Tomas S. Aleman, and Marni J. Falk


• Chapter 47: Ectopia Lentis and Associated Systemic Disease


• Elias I. Traboulsi, Noor Ghali, and Suneel B. Apte


• Chapter 48: Ocular Manifestations of Peroxisomal Disorders


• Lesley A. Everett and Mark E. Pennesi


• Chapter 49: Albinism


• Alina V Dumitrescu


• Chapter 50: Ocular Manifestations of Neuro-Oculo-Cutaneous Syndromes


• Manikum Moodley, Mary E. Aronow, Karla Robles-Lopez, and Virginia A. Miraldi Utz


• Chapter 51: Ciliopathies: Basic Mechanisms


• Brian D. Perkins


• Chapter 52: Usher Syndrome: Phenotype and Molecular Insights


• Sudan Puri, Wadih M. Zein, Sehar Riaz, Robert Hufnagel, Saima Riazuddin, and Zubair M. Ahmed


• Chapter 53: Pigmentary Retinopathy in Systemic Inherited Disease


• Eduardo Silva, Reecha Bahl, and Elias I. Traboulsi


• Chapter 54: Ocular Manifestations of Inherited Neurodegenerative Disorders


• Laryssa A. Huryn


• Chapter 55: Genetic Inflammatory Diseases with Ocular Involvement


• Marci Macaraeg, Arjun Sood, Mehmet Eren Guner, Melis Kabaalioglu Guner, Grant Schulert, Vinit B. Mahajan, Virginia Miraldi Utz, and Sheila T. Angeles-Han


• Chapter 56: Systemic Associations of Eyelid Tumors


• Saloni Kapoor, Elias I. Traboulsi, and Arun D. Singh


• Chapter 57: Genetic Aspects of Uveal Melanoma


• Valeria Visconte, Nakul Singh, and Arun D. Singh


• Chapter 58: Genetics of Retinoblastoma


• Nasrine Anais El Salloukh and Arun Singh


• Chapter 59: Emerging Instruments for Measuring Patient-Reported Outcomes in Inherited Retinal Diseases


• Alejandra M. Maiz, Rebhi Abuzaitoun, and K. Thiran Jayasundera


• Index

About the author

Elias I. Traboulsi, MD, MEd is the Head of the Department of Pediatric Ophthalmology and the Director of the Center for Genetic Eye Diseases at The Cleveland Clinic Cole Eye Institute and He is the executive Vice-President and Past President of The International Society for Genetic Eye Diseases and Retinoblastoma. He was Editor of Ophthalmic Genetics from 30 years. He authored more than 450 scientific articles and book chapters. He gave more than 20 named lectures including the Costenbader Lecture, the Marshall M. Parks Lecture, the Franceschetti and the François lectures. He received the Master Educator Award at Cleveland Clinic and the Parker Palmer Courage to Lead, and the John Gienapp Awards from the ACGME.

Virginia Miraldi Utz, MD is a pediatric ophthalmologist at Cincinnati Children's Hospital Medical Center. She is also a professor in the UC Department of Ophthalmology. Dr. Miraldi Utz is board certified and practices at the Burnet Campus. Her expertise lies in caring

for children with general pediatric eye disorders as well as specialized ocular conditions, including uveitis (eye inflammation) and genetic disorders involving the eye and body. She serves on the editorial board for the Ophthalmic Genetics Journal, as chairperson of the American Association for Pediatric Ophthalmology and Strabismus (AAPOS) Pediatric Uveitis Committee and as vice-chair for the AAPOS Genetic Eye Disease Committee.Her dedication to improving visual outcomes and quality of life for children with eye disorders is evident in her commitment to research and clinical practice.

Arif O. Khan, MD is Consultant in Pediatric Ophthalmology & Ocular Genetics at Cleveland Clinic Abu Dhabi, where he is responsible for the Pediatric Eye Care Service. Dr. Khan is also Professor of Ophthalmology at Cleveland Clinic Lerner College of Medicine of Case Western University. Previously, through the end of 2015, Dr. Khan was Senior Academic Consultant at the King Khaled Eye Specialist

Hospital and Senior Scientist at the King Faisal Specialist Hospital & Research Center, both in Riyadh, Saudi Arabia. Dr. Khan's clinical and research interests are the management and genetics of ocular developmental disorders and strabismus.

Product details

• Authors: MD Elias I. Traboulsi
• Assisted by: Arif O Khan (Editor), Arif O. Khan (Editor), Elias I Traboulsi (Editor), Elias I. Traboulsi (Editor), Virginia Miraldi Utz (Editor)
• Publisher: Oxford University Press
• Languages: English
• Product format: Hardback
• Release: 22.08.2025
• EAN: 9780197659403
• ISBN: 978-0-19-765940-3
• No. of pages: 1184
• Series: Oxford Monographs on Medical Genetics
• Subjects: Natural sciences, medicine, IT, technology > Medicine > Non-clinical medicine; MEDICAL / Ophthalmology, MEDICAL / Genetics, MEDICAL / Optometry, Medical Genetics, Optometry / opticians