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Genetics in ophthalmology
volume editors B. Wissinger, Susanne Kohl, U. Langenbeck
- Published
- Basel : Karger, 2003
- Series
- Developments in ophthalmology, ISSN 0250-3751 vol. 37
- Pagination
- VI, 223 s. : tab., grafy ; 24 cm
Language English Country Switzerland
Knihovny.cz ISBN
3-8055-7578-5
- MeSH
- Genetic Predisposition to Disease MeSH
- Genetic Therapy MeSH
- Genetic Diseases, Inborn MeSH
- Genetics, Medical MeSH
- Molecular Biology MeSH
- Eye Diseases genetics MeSH
- Ophthalmology MeSH
- Conspectus
- Ortopedie. Chirurgie. Oftalmologie
- NML Fields
- oftalmologie
- genetika, lékařská genetika
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 and a discussion of animal models and gene therapy.
Skrytá bibl.
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