Molecular elucidation of hereditary eye diseases: pivotal role of the clinician

For the diagnosis and molecular elucidation of many hereditary eye diseases, the chromosomal localization of the respective gene defects has been instrumental. Given the rapid progress of the global efforts to sequence the entire human genome and in view of new molecular strategies and resources to identify disease genes, further progress in this field will crucially depend on the unambiguous clinical classification of these disorders and on the ascertainment of well-characterized patients and their families. This article deals with conceptual, methodological and logistic aspects of genotype-phenotype analyses aiming at the elucidation of hereditary eye diseases. It stresses the importance of the clinical input in this field which is no longer dominated by molecular genetics.