Global Survey Details Achromatopsia Patient Journey
People with Achromatopsia describe long journey to diagnosis & their experiences living with their condition
Achromatopsia is a rare inherited retinal disease most
commonly caused by mutations in the CNGB3 and
CNGA3 genes and is associated with severely reduced
visual acuity and extreme photosensitivity, resulting
in daytime blindness. Profound sensitivity to light
during the day results in significant impairment in
visual function, and many patients cope by wearing
darkly tinted glasses to lessen the effect of light
Results of a new global survey conducted by the
patient advocacy organization Achroma Corp.
provided previously unavailable insights into the
experience of people with achromatopsia.
The Understanding the Achromatopsia Patient
Experience online survey was conducted on behalf
of Achroma Corp. and in partnership with the gene
therapy company Applied Genetic Technologies
Corporation (AGTC). It received 226 responses from
individuals who have been diagnosed – or have a
child who has been diagnosed – with achromatopsia.
The survey results indicate that only 58 percent of
adults and 65 percent of children with achromatopsia
have received genetic testing to confirm the correct
diagnosis and the underlying gene responsible.
Additional information about the survey can be found
Currently, members of the Foundation Fighting
Blindness registry who reside in the United States
and have a clinical diagnosis of an orphan inherited
retinal dystrophy studied by the Foundation can
participate in a FREE genetic testing and ocular
genetic counseling study with the assistance of their
eye doctor. This research study is available through
the Foundation Fighting Blindness registry “My
Retina Tracker®” ( www.myretinatracker.org).
By knowing their specific gene mutation,
achromatopsia patients, as well as others living with
inherited retinal diseases, may have the opportunity
to participate in applicable clinical trials. These
clinical trials are investigating potential treatments
for the condition while also advancing the scientific
understanding of their disease.
AGTC is recruiting for two separate Phase 1/2 clinical
trials for individuals with achromatopsia caused
by mutations in either the CNGB3 or the CNGA3
gene. For information about the AGTC gene therapy
clinical trial program, please visit www.agtc.com.
Results from Understanding the Achromatopsia
Patient Experience Survey