Ugeskr Læger 2014;176:V06140365
The genome in terms of audiology and ophthalmology
The article briefly reviews the impact of genetics and genomics in audiology and ophthalmology, respectively. The discovery of an increasing number of genes associated with hearing and visual impairment creates a foundation for a better understanding of pathophysiology, eventually leading to novel and more individualized treatments. Furthermore, genetic evaluation and counselling can contribute to molecular diagnosis, better prognostication, and mode of inheritance. Next Generation Sequencing is a technology well suited to dissect the vast genetic heterogeneity in these conditions.