Applications to Other Diseases
The same types of genetic strategies currently being tested for IRDs are also being tested and beginning to receive regulatory approvals in other areas of medicine. For example, the FDA has approved both gene-augmentation therapy and antisense oligonucleotide therapy for a specific type of the hereditary degenerative disease spinal muscular atrophy.
Genetic strategies are also being used for ex vivo (outside the body) treatment in conditions like sickle cell anemia and blood cancers. In these diseases, the target cell type is removed from the body and treated in a laboratory so that it expresses the therapeutic gene before being returned to the patient. In the years ahead, genetic therapies are likely to become a facet of care throughout the field of medicine.
Referral Guidelines
Genetic testing accompanied by genetic counseling, as well as clinical evaluation by an ophthalmologist knowledgeable about retinal dystrophies, is advised for individuals suspected or known to have a retinal dystrophy. Genetic testing has become increasingly accessible in recent years in large part due to sponsored programs that provide free testing. Individuals with genetic results that make them eligible to receive Luxturna® should be referred to one of the specialized treatment centers like Mass Eye and Ear that are able to administer this gene therapy for further evaluation and potential treatment.