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.