Achroma Corp. Announces Global Survey Results of 226 People with Achromatopsia


More than One-Third of Adults with Achromatopsia Were Misdiagnosed with Retinal or Cone Dystrophy


Only 58% of Adults and 65% of Children with Achromatopsia Have Received Genetic Testing


Results of a new global survey conducted by Achroma Corp. show that only 58 percent of adults and 65 percent of children with achromatopsia have received

genetic testing for the inherited retinal disease. Compounding the problem, more than one-third of people with achromatopsia were misdiagnosed with retinal

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



The Understanding the Achromatopsia Patient Experience survey was conducted online in January 2018 on behalf of Achroma Corp. The survey, conducted in

partnership with Applied Genetic Technology Corporation (AGTC), the gene therapy company, was distributed through Achroma Corp’s network and received

226 responses from individuals who have been diagnosed with – or have a child who has been diagnosed – with 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 perceived

barriers to obtaining a confirmatory genetic test,” commented Bridget Vissari, founder of Achroma Corp. “With several gene therapy studies in achromatopsia

underway, we remain committed to supporting efforts to educate medical professionals about this inherited retinal disorder as well as raising  awareness among

our community about the value of genetic testing.”


Survey Shows a Long Journey to Diagnosis for People with Achromatopsia


Nystagmus, followed by photosensitivity and impaired vision, are typically the initial symptoms that appear in affected children younger than two years of age.

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

immediately. Adults with achromatopsia saw an average of seven healthcare providers before diagnosis, and most received a diagnosis at five years or later

following a primary clinical consultation. Children with achromatopsia usually have a shorter journey, seeing an average of four healthcare providers in a span

of three years before receiving a diagnosis, with 32% receiving the diagnosis within a year of the initial onset of symptoms. Misdiagnosis was also cited as a

complicating factor for people with achromatopsia, with 34% of adults and 23% of children receiving an incorrect diagnosis of retinal or cone dystrophy. 

Overall, the majority of individuals with achromatopsia reported that the correct diagnosis came from ophthalmologists or pediatric ophthalmologists. Less

commonly, diagnoses also came from retinal specialists and low-vision specialists.


Photosensitivity and Poor Visual Acuity Have the Most Severe Impact on Daily Functioning 


Of the major symptoms of achromatopsia, photosensitivity is reported as the most debilitating and bothersome, having a profound impact on daily functioning

and emotional health and wellness. While the majority of affected individuals report that their photosensitivity has not changed over time (53% adults, 82%

children), more than one-third of adults believed that it has worsened and have taken additional steps to adapt – primarily through the use of eyewear with

darker tint/more extreme gradient (58%), expanded use of eyewear (53%), or avoiding the outdoors (44%).


Lack of Information and Perceived Cost are Barriers to Genetic Testing in Achromatopsia


Genetic testing is not uncommon in people with achromatopsia, although a lack of comprehensive information can hinder them from getting genetic testing.

Only 58% of adults and 65% percent of children with achromatopsia have received genetic testing, which can identify the specific gene mutation causing their

disease. For the 40% of adults who have not received genetic testing, the most commonly cited reasons were perceived cost (34%), lack of information on how

to access genetic testing (31%) or about its availability (29%). For parents of children with achromatopsia who have not received genetic testing, the most

common cited reason was lack of information on accessing genetic testing (27%). For information on how to obtain free genetic testing, go to Foundation

Fighting Blindness at


Gene therapy is the process of modifying a patient’s cells by adding a functional copy of the mutated gene, which causes the disease. The new functional copy

allows a patient’s own body to produce proteins to treat or prevent genetic conditions. AGTC is currently recruiting for two Phase 1/2 clinical trials for individuals

with achromatopsia caused by mutations in either the CNGB3 or the CNGA3 gene. Information about the Phase 1/2 clinical trial in achromatopsia caused by

CNGA3 can be found at under the trial identifier number NCT02935517, while the Phase 1/2 clinical trial in achromatopsia caused by CNGB3

can be found under the trial identifier number NCT02599922. For information about the AGTC’s gene therapy clinical trial program, please visit


This infographic illustrates these and additional survey findings. Achroma Corp. would like to thank all who shared their experience to make this survey possible,

and AGTC for their support in helping us better understand the patient journey to diagnosis.



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