Genetic diseases of the eye

Medientyp: Buch

Titel: Genetic diseases of the eye

Enthält: Section Four: Eye movement disorders ; Chapter 41: The genetics of nystagmus and associated inherited diseases / Shery Thomas and Irene Gottlob
Section Five: Systemic disease and the eye ; Chapter 43: Ectopia lentis and associated systemic disease / Elias I. Traboulsi and Suneel S. Apte
Section Six: Cancer genetics and the eye ; Chapter 47: Systemic associations of eyelid tumors / Michelle M. Ariss, Elias I. Traboulsi, and Arun D. Singh
Section Seven: Treatment ; Chapter 50: Vision rehabilitation of the patient with genetic eye disease / Joseph L. DeRose
Section One: Malformations ; Chapter 1: Embryology of the eye and the role of developmental genes / Olof H. Sundin
Section Two: Refractive errors, cornea, glaucoma, and cataracts ; Chapter 14: Inheritance of refractive errors / Wadih M. Zein and Arlene V. Drack
Section Three: Retina and optic nerve ; Chapter 20: Retinal function testing and genetic disease / Luis A.R. Gabriel, Neal S. Peachey, and Janet S. Sunness
Chapter 42: The genetics of strabismus and associated disorders / Gena Heidary, Elias I. Traboulsi, and Elizabeth C. Engle
Chapter 44: Peroxisomal disorders / Mark E. Pennesi and Richard G. Weleber
Chapter 45: Albinism / Reecha Sachdeva, Lisa S. Abrams, and Elias I. Traboulsi
Chapter 46: The phakomatoses / Michelle M. Ariss, Nicola K. Ragge, Manikum Moodley, and Elias I. Traboulsi
Chapter 48: Genetic aspects of uveal melanoma / Werner Wackernagel and Arun D. Singh
Chapter 49: Genetics of retinoblastoma / Emily Edelman, Rubens N. Belfort, Evelyn X. Fu, and Arun D. Singh
Chapter 51: Genetic counseling for genetic eye disorders / Joanne E. Sutherland
Chapter 52: Gene therapy for ocular diseases / Ben J. Kim and Nadia K. Waheed.
Chapter 2: Teratogens and ocular malformations / Kerstin Strömland and Marilyn T. Miller
Chapter 3: Malformations of the ocular adnexae / Craig Lewis, Katrinka L. Heher, James A. Katowitz, and Elias I. Traboulsi
Chapter 4: Nanophthalmos / Eduardo Duarte Silva and Olof H. Sundin
Chapter 5: Anophthalmia, colobomatous, microphthalmia, and optic fissure closure defects / Brian P. Brooks and Elias I. Traboulsi
Chapter 6: Cornea plana / Arif O. Khan
Chapter 7: Malformations of the anterior segment of the eye / James E. H. Smith and Elias I. Traboulsi
Chapter 8: Aniridia / Reecha Sachdeva and Elias I. Traboulsi
Chapter 9: Congenital anomalies of the optic nerve / Brian P. Brooks and Elias I. Traboulsi
Chapter 10: Congenital abnormalities of the retinal pigment epithelium / Arturo Santos and Elias I. Traboulsi
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
Chapter 12: Ocular manifestations of syndromes with craniofacial abnormalities / Wadih M. Zein, Amy Feldman Lewanda, Elias I. Traboulsi, and Ethylin Wang Jabs
Chapter 13: Ocular manifestations of chromosomal abnormalities / Sorath Noorani Siddiqui, Alex V. Levin, Matt Rusinek, Joanne E. Sutherland, and Anthony G. Quinn
Chapter 15: Corneal dystrophies / Walter Lisch, Elias I. Traboulsi, and Dimitri T. Azar
Chapter 16: The genetics of keratoconus / Marzena Gajecka
Chapter 17: Molecular genetics of primary congenital glaucoma / Roshanak Sharafieh, Anne H. Child, and Mansoor Sarfarazi
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
Chapter 19: Genetics of congenital cataracts / Madhavan Jagadeesan and Elise Héon
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
Chapter 22: Proteomic biomarkers for age-related macular degeneration / John W. Crabb
Chapter 23: Retinitis pigmentosa / Henry A. Ferreyra and John R. Heckenlively
Chapter 24: Juvenile retinoschisis / Paul A. Sieving and Lucia Ziccardi
Chapter 25: Achromatopsia-rod monochromacy / Susanne Kohl
Chapter 26: Cone dysfunction syndromes, cone dystrophies, and cone-rod degenerations / Elias I. Traboulsi
Chapter 27: North Carolina macular dystrophy/MCRD1 / Kean T. Oh and Kent Small
Chapter 28: Bestrophinopathies / Bart P. Leroy
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
Chapter 30: Disorders of color vision / Samir S. Deeb and Arno G. Motulsky
Chapter 31: Stargardt disease / Aimee V. Chappelow and Elias I. Traboulsi
Chapter 32: Congenital stationary night blindness / Elias I. Traboulsi, Bart P. Leroy, and Christina Zeitz
Chapter 33: Choroideremia / Ian M. MacDonald and Miguel C. Seabra
Chapter 34: Leber congenital amaurosis: clinical, genetic, and therapeutic perspectives / Robert K. Koenekoop, Frans P.M. Cremers, Irma Lopez, and Anneke I. den Hollander
Chapter 35: Familial exudative vitreoretinopathy, Norrie disease, and other developmental retinal vascular disorders / Johane M. Robitaille, Duane L. Guernsey, and Elias I. Traboulsi
Chapter 36: Hereditary vitreoretinopathies / Daniel F. Rosberger, Ravi D. Patel, and Elias I. Traboulsi
Chapter 37: Genetics of age-related maculopathy / Oluwatoyin Fafowora and Michael B. Gorin
Chapter 38: Pattern dystrophies of the RPE / Kean T. Oh
Chapter 39: Hereditary optic neuropathies / David A. Mackey
Chapter 40: Pigmentary retinopathy in systemic inherited disease / Ying Qian, Richard Alan Lewis, and Elias I. Traboulsi

Beteiligte: Traboulsi, Elias I. [Hrsg.]

Erschienen: New York [u.a.]: Oxford Univ. Press, 2012

Ausgabe: 2. ed.

Umfang: XV, 923 S.; Ill., graph. Darst

Sprache: Englisch

ISBN: 9780195326147; 0195326148

RVK-Notation: YO 2300 : Allgemeines

Schlagwörter: Augenkrankheit > Erbkrankheit > Missbildung

Entstehung:

Anmerkungen: Includes bibliographical references and index

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0 : Oxford monographs on medical genetics

Genetic diseases of the eye - [2. ed.]

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