Περιεχόμενα
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 Héon
Chapter 23: Molecular Genetics of Closed Angle Glaucoma
Elise Héon, Kavin Selvan, Alaa Tayyib, & Ajoy Vincent
Chapter 24: Electrophysiological Testing in Genetic Eye Disease
Rebecca M. Schur, Neal S. Peachey, & Alex Yuan
Chapter 25: Electroretinography in Children
Wanda L. Pfeifer & 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, & Stephen H. Tsang
Chapter 27: Imaging in Inherited Retinal Dystrophies
Matthew W. Russell, Elias I. Traboulsi, & Justis P. Ehlers
Chapter 28: Imaging in Congenital and Genetic Optic Nerve Anomalies
Tais Estrela, Nathan Troy Tagg, & Mays El-Dairi
Chapter 29: Retinitis Pigmentosa
David G. Birch & Abigail Fahim
Chapter 30: Juvenile Retinoschisis
Lucia Ziccardi & Paul A. Sieving
Chapter 31: Achromatopsia-Rod Monochromacy
Susanne Kohl, Stylianos Michalakis, & Katarina Stingl
Chapter 32: Cone Dysfunction Syndromes, Cone Dystrophies, and Cone-Rod Degenerations
Sarah Hull & 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 & Fadi Shaya
Chapter 34: Bestrophinopathies
Filip Van den Broeck & 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 & Jay Neitz
Chapter 37: Stargardt Disease (ABCA4-associated Retinopathies)
Virginia Miraldi Utz & Elias I. Traboulsi
Chapter 38: Congenital Stationary Night Blindness
Christina Zeitz & Isabelle Audo
Chapter 39: Choroideremia
Ian M. MacDonald, Fay Zhai, Manlong Xu, Alina Radziwon, & Miguel Seabra
Chapter 40: Leber Congenital Amaurosis and Early-Onset Severe Inherited Retinal Degenerations: Clinical, Genetic, and Therapeutic Perspectives
Tomas S. Aleman & 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 & Alex Yuan
Chapter 43: Hereditary Optic Neuropathies
Veeral S. Shah, Razek Coussa, & Elias I. Traboulsi
Chapter 44: The Genetics of Infantile Nystagmus and Associated Inherited Diseases
Veeral S. Shah, Elias I. Traboulsi, & Irene Gottlob
Chapter 45: The Genetics of Strabismus and Associated Disorders
Mary C. Whitman, Gena Heidary, Elias I. Traboulsi, & Elizabeth C. Engle
Chapter 46: Mitochondrial Inherited Primary Retinopathies and Optic Neuropathies
Razek Georges Coussa, Tomas S. Aleman, & Marni J. Falk
Chapter 47: Ectopia Lentis and Associated Systemic Disease
Elias I. Traboulsi, Noor Ghali, & Suneel B. Apte
Chapter 48: Ocular Manifestations of Peroxisomal Disorders
Lesley A. Everett & 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, & 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, & Zubair M. Ahmed
Chapter 53: Pigmentary Retinopathy in Systemic Inherited Disease
Eduardo Silva, Reecha Bahl, & 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, & Sheila T. Angeles-Han
Chapter 56: Systemic Associations of Eyelid Tumors
Saloni Kapoor, Elias I. Traboulsi, & Arun D. Singh
Chapter 57: Genetic Aspects of Uveal Melanoma
Valeria Visconte, Nakul Singh, & Arun D. Singh
Chapter 58: Genetics of Retinoblastoma
Nasrine Anais El Salloukh & Arun Singh
Chapter 59: Emerging Instruments for Measuring Patient-Reported Outcomes in Inherited Retinal Diseases
Alejandra M. Maiz, Rebhi Abuzaitoun, & K. Thiran Jayasundera
Index
