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BLOG: The future is arriving for inherited retinal disease
David Bogorad, one of my cataract surgeon mentors, used to poke fun at our retina colleagues, saying, “It takes no guts to operate on a blind eye.”
Indeed, too many retinal diseases have always offered a limited prognosis, but that is beginning to change even for some of retina’s most grim diseases. Anterior segment surgeons should pay attention, and respect.
In the next 10 years, our field is likely to see an incredible increase in successes in treatments for inherited retinal disease, which previously offered little hope, for the following reasons:
1. The tools for innovation are now in place. Our ability to rapidly identify and sequence genes responsible for disease has led to an explosion of knowledge about these challenging diseases. This, coupled with advances in gene therapy in all fields of medicine, sets the stage for effective treatments in the near term. For example, Leber’s congenital amaurosis, a complicated retinal degeneration with variants affecting more than 14 different genes, may soon have an approved treatment targeting the common RPE65 mutation variant. FDA studies of this treatment, known as voretigene neparvovec, are showing promise in improving visual functioning in affected individuals. We can certainly expect more products of this type soon.
2. There is a financial model. Product approvals still haven’t happened, so pricing is just theoretical at this point. Evidence suggests CMS will put a high value — as much as a million dollars — on restoring vision to a previously untreatable blind person. Is that too much? Maybe, because we also cure blindness when we remove a cataract for $600. But patients with inherited retinal disease have no other options, and they deserve a system that incentivizes innovation from a profit-motivated industry. High financial incentives and a streamlined FDA approval process for these orphan treatments seem to be enough incentive to drive ambitious companies and scientists.
3. We know how to find the patients. Inherited retinal diseases affect only about one in 3,000 individuals, but most have been labeled with diagnostic codes that are easy to search. They follow support groups that will trumpet new hope. And still more can be found and screened with increasingly accurate genetic testing to identify their specific disease variant. It seems most would be more than willing to consider treatment in light of the dark alternative.
Naturally, this discussion is all a bit of an oversimplification. Treatment efficacy won’t be 100% because of variations in the diseases themselves and the uncertain ability to direct therapy to a possibly unreceptive target tissue. Side effects of the necessary subretinal injections are sure to be a consideration. And visual improvements will be limited for many. But for a population whose only solace has been “let’s hope for the future,” it seems that future is now arriving.
Disclosure: Hovanesian reports no relevant financial disclosures.