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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 mec
Eye --- Diseases --- Genetic aspects. --- Abnormalities. --- Abnormities and deformities --- Eye Diseases, Hereditary
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This book provides current, clinically focused information on more than 400 genetic eye diseases.
Lacrimal apparatus --- Eyelids --- Eye --- Abnormalities. --- Diseases --- Diagnosis. --- Genetic aspects. --- Abnormities and deformities --- Lacrimal Apparatus --- Eye Diseases, Hereditary --- Eyelashes --- Eyebrows --- abnormalities
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Eye --- Ophthalmology --- Diseases. --- Diseases --- Genetic aspects. --- Diseases and defects --- Eye Diseases, Hereditary --- Genetic aspects --- genetics. --- therapy. --- Eyeball --- Eyes --- Visual system --- Face --- Photoreceptors --- Vision --- Genetics --- genetics --- therapy --- Eye Diseases
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The hereditary retinopathy, retinitis pigmentosa (RP), which affects 1 in 3,500 people worldwide, is the most common cause of registered visual handicap among those of the working age in developed countries. RP is a highly variable disorder where patients may develop symptomatic visual loss in early childhood, while others may remain asymptomatic until mid-adulthood. Most cases of RP segregate in autosomal dominant, recessive or X-linked recessive modes, with approximately 41 genes being implicated in disease pathology to date (RetNet). The extensive genetic heterogeneity associated with autosomal dominant RP (adRP) is an undisputed hindrance to the development of genetically based therapeutics.
Medicine. --- Ophthalmology. --- Retina -- Diseases -- Congresses. --- Retina -- Diseases -- Genetic aspects. --- Retina --- Retinal Dystrophies --- Biology --- Eye Diseases, Hereditary --- Eye Diseases --- Retinal Degeneration --- Biological Science Disciplines --- Genetic Diseases, Inborn --- Retinal Diseases --- Natural Science Disciplines --- Congenital, Hereditary, and Neonatal Diseases and Abnormalities --- Diseases --- Disciplines and Occupations --- Retinitis Pigmentosa --- Genetics --- Medicine --- Health & Biological Sciences --- Ophthalmology & Optometry --- Pathology --- Genetic aspects --- Eye --- Genetic aspects. --- Human genetics. --- Gene therapy. --- Biomedicine. --- Human Genetics. --- Gene Therapy. --- Posterior segment (Eye) --- Therapy, Gene --- Genetic engineering --- Therapeutics --- Heredity, Human --- Human biology --- Physical anthropology
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Finalist for the 2010 Minnesota Book Award presented by the Friends of the Saint Paul Public LibraryMara Faulkner grew up in a family shaped by Irish ancestry, a close-to-the-bone existence in rural North Dakota, and the secret of her father's blindness—along with the silence and shame surrounding it. Dennis Faulkner had retinitis pigmentosa, a genetic disease that gradually blinded him and one that may blind many members of his family, including the author. Moving and insightful, Going Blind explores blindness in its many permutations—within the context of the author's family, more broadly, as a disability marked by misconceptions, and as a widely used cultural metaphor. Mara Faulkner delicately weaves her family's story into an analysis of the roots and ramifications of the various metaphorical meanings of blindness, touching on the Catholic Church of the 1940s and 1950s, Japanese internment, the Germans from Russia who dominated her hometown, and the experiences of Native people in North Dakota. Neither sentimental nor dispassionate, the author asks whether it's possible to find gifts when sight is lost.
Children of blind parents --- Vision Disorders --- Eye Diseases, Hereditary --- Eye Diseases --- Sensation Disorders --- Diseases --- Neurologic Manifestations --- Nervous System Diseases --- Retinitis Pigmentosa --- Blindness --- Sociology & Social History --- Social Sciences --- Family & Marriage --- Blindness, Acquired --- Blindness, Complete --- Blindness, Hysterical --- Blindness, Transient --- Amaurosis --- Bilateral Blindness --- Blindness, Bilateral --- Blindness, Legal --- Blindness, Monocular --- Blindness, Unilateral --- Sudden Visual Loss --- Unilateral Blindness --- Acquired Blindness --- Amauroses --- Bilateral Blindnesses --- Complete Blindness --- Hysterical Blindness --- Legal Blindness --- Monocular Blindness --- Sudden Visual Losses --- Transient Blindness --- Visual Loss, Sudden --- Visually Impaired Persons --- Pigmentary Retinopathy --- Tapetoretinal Degeneration --- Pigmentary Retinopathies --- Retinopathies, Pigmentary --- Retinopathy, Pigmentary --- Tapetoretinal Degenerations --- Tangier Disease --- Nervous System Disorders --- Neurological Disorders --- Neurologic Disorders --- Disease, Nervous System --- Diseases, Nervous System --- Disorder, Nervous System --- Disorder, Neurologic --- Disorder, Neurological --- Disorders, Nervous System --- Disorders, Neurologic --- Disorders, Neurological --- Nervous System Disease --- Nervous System Disorder --- Neurologic Disorder --- Neurological Disorder --- Neurology --- Focal Neurologic Deficits --- Manifestations, Neurologic --- Manifestations, Neurological --- Neurologic Dysfunction --- Neurologic Findings --- Neurologic Manifestation --- Neurologic Signs --- Neurologic Symptoms --- Neurological Manifestations --- Neurologic Deficits --- Neurologic Signs and Symptoms --- Deficit, Focal Neurologic --- Deficit, Neurologic --- Deficits, Focal Neurologic --- Deficits, Neurologic --- Dysfunction, Neurologic --- Dysfunctions, Neurologic --- Finding, Neurologic --- Findings, Neurologic --- Focal Neurologic Deficit --- Manifestation, Neurologic --- Manifestation, Neurological --- Neurologic Deficit --- Neurologic Deficit, Focal --- Neurologic Deficits, Focal --- Neurologic Dysfunctions --- Neurologic Finding --- Neurologic Sign --- Neurologic Symptom --- Neurological Manifestation --- Sign, Neurologic --- Signs, Neurologic --- Symptom, Neurologic --- Symptoms, Neurologic --- Nervous System --- Sensory Disorders --- Special Senses Disorders --- Sensation Disorder --- Senses Disorder, Special --- Senses Disorders, Special --- Sensory Disorder --- Special Senses Disorder --- Eye Disorders --- Eye Disease --- Eye Disorder --- Ophthalmology --- Hereditary Eye Diseases --- Eye Disease, Hereditary --- Hereditary Eye Disease --- Day Blindness --- Metamorphopsia --- Vision Disability --- Visual Disorders --- Visual Impairment --- Hemeralopia --- Macropsia --- Micropsia --- Blindness, Day --- Disabilities, Vision --- Disability, Vision --- Disorder, Visual --- Disorders, Visual --- Hemeralopias --- Impairment, Visual --- Impairments, Visual --- Macropsias --- Metamorphopsias --- Micropsias --- Vision Disabilities --- Vision Disorder --- Visual Disorder --- Visual Impairments --- Blind parents' children --- Blind parents --- Faulkner, Mara.
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