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Genetics in Ophthalmology
About this book
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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Table of contents
- 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