Lack of Information and Perceived Cost are Barriers to Genetic Testing in Achromatopsia While the majority of affected individuals report that their photosensitivity has not changed over time (53% adults, 82%Ĭhildren), more than one-third of adults believed that it has worsened and have taken additional steps to adapt – primarily through the use of eyewear withĭarker tint/more extreme gradient (58%), expanded use of eyewear (53%), or avoiding the outdoors (44%). Of the major symptoms of achromatopsia, photosensitivity is reported as the most debilitating and bothersome, having a profound impact on daily functioningĪnd emotional health and wellness. Photosensitivity and Poor Visual Acuity Have the Most Severe Impact on Daily Functioning LessĬommonly, diagnoses also came from retinal specialists and low-vision specialists. Overall, the majority of individuals with achromatopsia reported that the correct diagnosis came from ophthalmologists or pediatric ophthalmologists. Misdiagnosis was also cited as aĬomplicating factor for people with achromatopsia, with 34% of adults and 23% of children receiving an incorrect diagnosis of retinal or cone dystrophy. Of three years before receiving a diagnosis, with 32% receiving the diagnosis within a year of the initial onset of symptoms. Children with achromatopsia usually have a shorter journey, seeing an average of four healthcare providers in a span Adults with achromatopsia saw an average of seven healthcare providers before diagnosis, and most received a diagnosis at five years or laterįollowing a primary clinical consultation.

This road to diagnosis usually starts with a general practitioner, also known as a primary care physician, who rarely refers the patient to a retinal specialist Nystagmus, followed by photosensitivity and impaired vision, are typically the initial symptoms that appear in affected children younger than two years of age. Survey Shows a Long Journey to Diagnosis for People with Achromatopsia Our community about the value of genetic testing.” Underway, we remain committed to supporting efforts to educate medical professionals about this inherited retinal disorder as well as raising awareness among “With several gene therapy studies in achromatopsia “The results of this survey underscore the challenges that people with achromatopsia face in receiving an early and accurate diagnosis, as well as the perceivedīarriers to obtaining a confirmatory genetic test,” commented Bridget Vissari, founder of Achroma Corp. Partnership with Applied Genetic Technology Corporation (AGTC), the gene therapy company, was distributed through Achroma Corp’s network and receivedĢ26 responses from individuals who have been diagnosed with – or have a child who has been diagnosed – with achromatopsia. The Understanding the Achromatopsia Patient Experience survey was conducted online in January 2018 on behalf of Achroma Corp. Or cone dystrophy, with adults usually seeing an average of seven healthcare providers over a span of more than five years, on average, to receive the correct

Compounding the problem, more than one-third of people with achromatopsia were misdiagnosed with retinal Genetic testing for the inherited retinal disease. show that only 58 percent of adults and 65 percent of children with achromatopsia have received Results of a new global survey conducted by Achroma Corp. Only 58% of Adults and 65% of Children with Achromatopsia Have Received Genetic Testing More than One-Third of Adults with Achromatopsia Were Misdiagnosed with Retinal or Cone Dystrophy Announces Global Survey Results of 226 People with Achromatopsia

Achroma disorder