[Important progress for the ophthalmologist in basic genetic research].

Abstract

Ophthalmologists and human geneticists share a long standing interest in hereditary diseases and anomalies of the eye. 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 have not only led to theoretical insights but 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. Its influence on other types of tumors, such as osteosarcoma and breast cancer must be clarified. Sequencing of the gene opens the possibility of reconstructing the primary gene product by "reverse genetics" and of analyzing its mode of action. DNA analysis has been extended to an increasing number of eye diseases. Precise clinical and genetic analysis and diagnosis are of primary importance, however, for progress in this field.