Für den Augenartz wichtige Fortschritte der genetischen Grundlagenforschung

Many of the primary genetic eye diseases are known, as ophthalmic symptoms are frequently part of a pleiotropic gene effect or the eye is affected secondarily. Progress in human genetics has also improved the understanding of genetic eye diseases. This can be demonstrated in the analysis of the function of color-vision genes and their abnormalities as well as the retinoblastoma gene. A line can be drawn from early formal analysis of pedigrees to cytogenetic mapping and, finally DNA analysis and sequencing of the involved genes. These advances also have practical applications where the determination of risk is concerned or prenatal diagnosis, genetic counselling, preventive measures and guidance. The retinoblastoma gene has become an important model for a tumor suppressor gene and tumorigenesis in general