The objective of this publication is to enhance mutual understanding and communication between ophthalmologists, molecular geneticists, genetic counselors and biomedical researchers. In the introductory chapter, current genetic paradigms and experimental genetic approaches relevant to the nature of hereditary disorders are discussed. The following contribution on the epidemiology of hereditary ocular disorders provides an excellent reference to geneticists as well as clinicians. Myopia is presented as an example of a complex clinical phenotype where genes and environment interact. Further molecular ophthalmogenetic topics, such as corneal dystrophies, cataract, glaucoma, opticus neuropathy, non-syndromic and syndromic pigmentary retinopathies, defects of vitamin A metabolism and macular dystrophies including age-related macular degeneration, are investigated in depth. The volume concludes with a survey of color vision deficiencies, a discussion of animal models and gene therapy, and a useful description of technical devices supporting patients who are losing sight.

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Yes, you can access Genetics in Ophthalmology by Bandello, Wissinger, Kohl, Langenbeck in PDF and/or ePUB format, as well as other popular books in Medicine & Genetics in Medicine. We have over one million books available in our catalogue for you to explore.

Information

Publisher

S. Karger

Year

2003

ISBN

9783318009712

Edition

Topic

Medicine

Subtopic

Genetics in Medicine

Contents
A Glimpse into Genomeland
Epidemiology of Hereditary Ocular Disorders
Interactions of Genes and Environment in Myopia
A Molecular Perspective on Corneal Dystrophies
Molecular Genetics of Cataract
Progress in the Genetics of Glaucoma
LHON and Other Optic Nerve Atrophies: The Mitochondrial Connection
Retinitis pigmentosa: Genes, Proteins and Prospects
Bardet-Biedl Syndrome and Usher Syndrome
Genetic Defects in Vitamin A Metabolism of the Retinal Pigment Epithelium
Genetics of Macular Dystrophies and Implications for Age-Related Macular Degeneration
Genetics of Color Vision Deficiencies
Gene Therapy and Animal Models for Retinal Disease
Support for Patients Loosing Sight
Author Index
Subject Index