Genetic diseases of the eye
By: edited by Elias I. Traboulsi
Edition: 2nd ed.
Series: Oxford monographs on medical genetics -- 61; Oxford monographs on medical genetics -- no. 61.
Publisher: Oxford University Press
Published: 2012
Place of publication: New York
Language: eng
Number of pages: 923
ISBN-13: 9780195326147
Subjects: Abnormalities; Hereditary Eye Diseases; Diseases; Eye; Genetic aspects
Notes: Includes bibliographical references and index.
Table of contents: title: Section One: Malformations; title: Chapter 1: Embryology of the eye and the role of developmental genes  -- Olof H. Sundin; title: Chapter 2: Teratogens and ocular malformations  -- Kerstin Strömland and Marilyn T. Miller; title: Chapter 3: Malformations of the ocular adnexae  -- Craig Lewis, Katrinka L. Heher, James A. Katowitz, and Elias I. Traboulsi; title: Chapter 4: Nanophthalmos  -- Eduardo Duarte Silva and Olof H. Sundin; title: Chapter 5: Anophthalmia, colobomatous, microphthalmia, and optic fissure closure defects  -- Brian P. Brooks and Elias I. Traboulsi; title: Chapter 6: Cornea plana  -- Arif O. Khan; title: Chapter 7: Malformations of the anterior segment of the eye  -- James E. H. Smith and Elias I. Traboulsi; title: Chapter 8: Aniridia  -- Reecha Sachdeva and Elias I. Traboulsi; title: Chapter 9: Congenital anomalies of the optic nerve  -- Brian P. Brooks and Elias I. Traboulsi; title: Chapter 10: Congenital abnormalities of the retinal pigment epithelium  -- Arturo Santos and Elias I. Traboulsi; title: Chapter 11: Prenatal imaging of the eye and ocular adnexae  -- Erin Broaddus, Donna Patno, Janet Reid, Jeffrey Chapa, Elias I. Traboulsi, and Arun D. Singh; title: Chapter 12: Ocular manifestations of syndromes with craniofacial abnormalities  -- Wadih M. Zein, Amy Feldman Lewanda, Elias I. Traboulsi, and Ethylin Wang Jabs; title: Chapter 13: Ocular manifestations of chromosomal abnormalities -- Sorath Noorani Siddiqui, Alex V. Levin, Matt Rusinek, Joanne E. Sutherland, and Anthony G. Quinn; title: Section Two: Refractive errors, cornea, glaucoma, and cataracts; title: Chapter 14: Inheritance of refractive errors  -- Wadih M. Zein and Arlene V. Drack; title: Chapter 15: Corneal dystrophies  -- Walter Lisch, Elias I. Traboulsi, and Dimitri T. Azar; title: Chapter 16: The genetics of keratoconus  -- Marzena Gajecka; title: Chapter 17: Molecular genetics of primary congenital glaucoma  -- Roshanak Sharafieh, Anne H. Child, and Mansoor Sarfarazi; title: Chapter 18: Molecular genetics of primary open-angle glaucoma  -- Anne H. Child, Filipe M. Pereira da Silva, Jose Aragon-Martin, Roshanak Sharafieh, and Mansoor Sarfarazi; title: Chapter 19: Genetics of congenital cataracts -- Madhavan Jagadeesan and Elise Héon; title: Section Three: Retina and optic nerve; title: Chapter 20: Retinal function testing and genetic disease  -- Luis A.R. Gabriel, Neal S. Peachey, and Janet S. Sunness; title: Chapter 21: Genetic pathways in retinal degenerations and targets for therapy  -- Loh-Shan Bryan Leung, Vinod Babu Voleti, Jonathan H. Lin, and Stephen H. Tsang; title: Chapter 22: Proteomic biomarkers for age-related macular degeneration  -- John W. Crabb; title: Chapter 23: Retinitis pigmentosa  -- Henry A. Ferreyra and John R. Heckenlively; title: Chapter 24: Juvenile retinoschisis  -- Paul A. Sieving and Lucia Ziccardi; title: Chapter 25: Achromatopsia-rod monochromacy  -- Susanne Kohl; title: Chapter 26: Cone dysfunction syndromes, cone dystrophies, and cone-rod degenerations  -- Elias I. Traboulsi; title: Chapter 27: North Carolina macular dystrophy/MCRD1  -- Kean T. Oh and Kent Small; title: Chapter 28: Bestrophinopathies  -- Bart P. Leroy; title: Chapter 29: NR2E3-linked retinal degenerations: enhanced S-cone sensitivity syndrome, Goldmann-Favre syndrome, clumped pigmentary retinal degeneration, and retinitis pigmentosa  -- Daniel F. Schorderet, Neena Haider, and Pascal Escher; title: Chapter 30: Disorders of color vision  -- Samir S. Deeb and Arno G. Motulsky; title: Chapter 31: Stargardt disease  -- Aimee V. Chappelow and Elias I. Traboulsi; title: Chapter 32: Congenital stationary night blindness  -- Elias I. Traboulsi, Bart P. Leroy, and Christina Zeitz; title: Chapter 33: Choroideremia  -- Ian M. MacDonald and Miguel C. Seabra; title: Chapter 34: Leber congenital amaurosis: clinical, genetic, and therapeutic perspectives  -- Robert K. Koenekoop, Frans P.M. Cremers, Irma Lopez, and Anneke I. den Hollander; title: Chapter 35: Familial exudative vitreoretinopathy, Norrie disease, and other developmental retinal vascular disorders  -- Johane M. Robitaille, Duane L. Guernsey, and Elias I. Traboulsi; title: Chapter 36: Hereditary vitreoretinopathies  -- Daniel F. Rosberger, Ravi D. Patel, and Elias I. Traboulsi; title: Chapter 37: Genetics of age-related maculopathy  -- Oluwatoyin Fafowora and Michael B. Gorin; title: Chapter 38: Pattern dystrophies of the RPE  -- Kean T. Oh; title: Chapter 39: Hereditary optic neuropathies  -- David A. Mackey; title: Chapter 40: Pigmentary retinopathy in systemic inherited disease -- Ying Qian, Richard Alan Lewis, and Elias I. Traboulsi; title: Section Four: Eye movement disorders; title: Chapter 41: The genetics of nystagmus and associated inherited diseases  -- Shery Thomas and Irene Gottlob; title: Chapter 42: The genetics of strabismus and associated disorders -- Gena Heidary, Elias I. Traboulsi, and Elizabeth C. Engle; title: Section Five: Systemic disease and the eye; title: Chapter 43: Ectopia lentis and associated systemic disease  -- Elias I. Traboulsi and Suneel S. Apte; title: Chapter 44: Peroxisomal disorders  -- Mark E. Pennesi and Richard G. Weleber; title: Chapter 45: Albinism  -- Reecha Sachdeva, Lisa S. Abrams, and Elias I. Traboulsi; title: Chapter 46: The phakomatoses -- Michelle M. Ariss, Nicola K. Ragge, Manikum Moodley, and Elias I. Traboulsi; title: Section Six: Cancer genetics and the eye; title: Chapter 47: Systemic associations of eyelid tumors  -- Michelle M. Ariss, Elias I. Traboulsi, and Arun D. Singh; title: Chapter 48: Genetic aspects of uveal melanoma  -- Werner Wackernagel and Arun D. Singh; title: Chapter 49: Genetics of retinoblastoma -- Emily Edelman, Rubens N. Belfort, Evelyn X. Fu, and Arun D. Singh; title: Section Seven: Treatment; title: Chapter 50: Vision rehabilitation of the patient with genetic eye disease  -- Joseph L. DeRose; title: Chapter 51: Genetic counseling for genetic eye disorders  -- Joanne E. Sutherland; title: Chapter 52: Gene therapy for ocular diseases -- Ben J. Kim and Nadia K. Waheed.