With more than 300 diseasecausing genes mapped and more than 260 cloned,1 the field of inherited retinal diseases (IRDs) has experienced tremendous advances over the past 2 decades. This vast genetic heterogeneity represents both a great opportunity and a remarkable challenge. The identification of the causes of so many forms of IRD and the growing body of knowledge of their functions and underlying disease mechanisms have allowed the development of exciting new gene/disease–specific treatment opportunities (Figure 1A). However, the development and delivery to bedside of gene/disease–specific
treatments for each of the genes identified
to date are daunting tasks that may
require decades for full implementation.
With exciting new treatments
now aimed at an even more granular
level—targeting not just specific genes
but, in fact, specific mutations—the
task at hand is expanded by several
orders of magnitude. Furthermore,
gene/disease–specific treatments rely
on persistent target cells and sufficient
visual function to permit efficacy.
For the many patients who are outside
of this window of opportunity,