The report by Stone et al1 in this issue (see page 1314) is a timely reminder of the revolution under way in molecular genetic testing for inherited retinal disease (IRD). The new approach to testing involves the use of next-generation sequencing (NGS), a term used to describe a number of different technologies that use a common strategy of [...]
Incremental advances in the field of retinal genetics have transformed our understanding of inherited retinal disorders and have led to the development of powerful diagnostic tests and promising gene-based therapies. Despite this, successful integration of these developments into routine healthcare is frequently ineffective. Providing robust evidence of benefit can accelerate the implementation of clinical genetic [...]
Inherited retinal degenerations (IRDs) lead to incurable vision loss and affect 1 in 2000 to 3000 individuals. These disorders may cause blindness associated with dysfunction or death of photoreceptor cells, but prognosis is difficult to determine due to variable disease expression. There have been significant advances in understanding the pathogenesis and genetics of IRDs with [...]