For years, people with inherited retinal diseases (IRDs), such as achromatopsia (ACHM), have been undiagnosed, misdiagnosed or delayed seeking genetic testing to confirm their diagnosis due to the lack of treatment options. Thanks to the rapid advancement of gene therapy research, this situation is changing. Achromatopsia patients, however, still face a long journey in pursuit of an early and accurate diagnosis.
People with ACHM tend to be affected by color blindness, light sensitivity and decreased visual acuity. The condition results from mutations in one of several genes, the most common of which are the CNGA3 and CNGB3 genes. Although there are no curative treatments for ACHM, the use of red-tinted glasses can reduce symptoms of light sensitivity and daytime blindness. According to the National Institutes of Health, ACHM affects an estimated 1 in 30,000 people worldwide.
A recent survey was conducted online in January 2018 on behalf of Achroma Corp., a nonprofit charity dedicated to raising awareness and finding a cure for ACHM, and in partnership with Applied Genetic Technologies Corporation (AGTC), a UF gene therapy company and UF Innovate | Sid Martin Biotech alumnus, to better understand the challenges that people with ACHM face regarding diagnosis and access to genetic testing. Results showed more than one-third of people with ACHM were misdiagnosed, with adults usually seeing an average of seven healthcare providers over more than five years to receive the correct diagnosis. Additionally, the survey found fewer than two-thirds of respondents received genetic testing due to perceived lack of knowledge and access.Learn more about Gene Therapy Offers Hope to People With Achromatopsia, an Inherited Retinal Eye Disease.