Attitudes of patients and relatives/carers towards genetic testing for inherited retinal disease.

摘要

Inherited retinal diseases are an important cause of congenital and acquired visual disability.1 Over the last decade, there has been an exponential increase in the number of genes implicated in inherited retinal disease, and currently > 200 genes and loci are known to be involved (http://www.sph.uth.tmc.edu/Retnet/ home.htm). Genetic testing for inherited retinal disease offers a number of potential benefits and there is enthusiasm for testing among clinicians.2'3 With the increasing availability of genetic testing for inherited retinal diseases, the views of those affected and their relatives are important, but are rarely sought.4 We conducted a pilot survey of delegates at the national conference of the Retina Awareness Group in 2009 to explore current attitudes to genetic testing for inherited retinal disease.