Genetic Diseases of the Eye
Elias I. Traboulsi
Oxford University Press, USA, Jan 12, 2012 - Medical - 923 pages
This highly anticipated new edition brings together an expert group of authors to provide a comprehensive, systematic sourcebook on genetic diseases of the eye. This richly illustrated, full color text covers areas such as: malformations; refractive errors, the cornea, glaucoma and cataracts; retina and the optic nerve; eye movement disorders, and systemic disease of the eye. The new edition remains grounded in a sound clinical approach to the patient with a genetic disease that affects the eye. Each chapter emphasizes the clinical aspects of disease, tying them to the underlying molecular mechanisms and outlining current therapy. While the molecular underpinnings, testing methods and therapy of genetic disorders continues to evolve, the clinical aspects are well established and are emphasized in this book. A large number of color figures are utilized to illustrate the various chapters and provide an essential Atlas aspect to this publication. This book is a 'must have' for pediatric ophthalmologists, retina specialists, and geneticists. New to this edition: - Several chapters have been dedicated to individual disorders, especially the retinal dystrophies, whose molecular genetic basis has been elucidated in the last decade or so. - A large chapter on genetic counseling has been added to the book that is case and family-based and provides a practical approach to counseling patients and families with inherited eye diseases. - A new chapter on the genetics of age-related macular degeneration and on proteomics as applies to age-related macular degeneration adds a new dimension to this book. - A new chapter on teratogens and ocular malformations by Kirstin Stromland, one of the world leaders in this field. - A new section on cancer genetics and the eye - New chapters on ocular imaging and gene therapy for inherited eye diseases.
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abnormalities achromatopsia affected allele aniridia anomalies Arch Ophthalmol associated atrophy autosomal dominant autosomal recessive bilateral cataract cause cells choroidal choroideremia chromosome Clin clinical coloboma color vision cone congenital congenital glaucoma corneal dystrophy coworkers defects deletion developmental diagnosis disorder encoding epithelial exon factor fetal function fundus glaucoma heterozygous Hum Genet Hum Mol Genet human hypertelorism hypoplasia identified inherited Invest Ophthalmol involved iris keratoconus lens lesions linkage locus macular dystrophy malformations Manifestations mapped membrane microphthalmia molecular mouse myopia Nat Genet normal Norrie disease ocular ofthe OMIM opacities Ophthalmic Genet Ophthalmol Vis Sci Ophthalmology optic disc optic nerve palpebral fissures patients PAX6 Pediatr Ophthalmol Strabismus peripheral phenotype photoreceptor pigment gene POAG polymorphism posterior prenatal protein receptor refractive region reported result retinal detachment retinal pigment retinitis pigmentosa retinoschisis rhodopsin segment Strabismus syndrome tion tissue Traboulsi trisomy vascular visual acuity vitreous X-linked