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Eye Diseases --- Eye Diseases, Hereditary

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Eye --- Eye Diseases, Hereditary. --- Abnormalities. --- Diseases --- Genetic aspects.

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During the past two decades, our understanding of the molecular genetics of inherited eye diseases, their classification, and management has undergone a huge expansion as the field of human genetics has benefited from technological advances and increased interest by physicians and scientists in all fields. As a result, the amount of clinical and basic-science information on inherited systemic and eye diseases has become so large that general ophthalmologists, ophthalmic subspecialists, and physicians in other fields have found it difficult to keep up. This volume will act as a guide because it catalogues all the latest information about genetic diseases that involve the eye and presents it in a practical and accessible format. After an introductory chapter that reviews basic clinical and molecular-genetic principles, individual diseases and groups of diseases are listed alphabetically in order to make it as easy as possible to search for an entry. The material in each entry is a synthesis of numerous articles and reviews on the topic, accompanied by at least one high-quality illustration, at least one webpage of a patient support group or other organization related to the disease, and references that provide the original description of the disease, an excellent review, or useful illustrations. There is also a companion website containing electronic copies of all the illustrations to make it easy to use them in lectures. Health-care professionals who need immediate access to clinical and basic-science information on inherited systemic and eye diseases will find this volume indispensable.

Eye Diseases, Hereditary --- Eye --- Genetic disorders --- Ocular manifestations of general diseases. --- Genetics. --- Diseases --- Genetic aspects. --- Complications. --- Ocular manifestations of general diseases --- Genetic aspects --- Complications --- genetics --- Eye - Diseases - Genetic aspects --- Genetic disorders - Complications --- Eye Diseases, Hereditary - genetics

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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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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