New to the John and Marcia Nonprofit Genetic Testing Laboratory, Project Achromatopsia, otherwise known as "Project Chroma" is modeled after our "Project 3000" from which, at the time of this writing, we have identified 85% of children with LCA age 10 or younger and 50% of individuals between the ages of 11 and 20. The success of Project 3000 is the direct result of a unique cooperative effort between not only our major supporters, to whom we are most grateful, but also between the dozens of physicians and hundreds of patients who understand and value the significance of such a project. Now that treatments are underway for LCA (and other blinding eye diseases), it is more important than ever to spread the word about genetic testing.
Achromatopsia (ACHM) is an inherited eye condition present from birth. It is most often characterized by poor visual acuity, nystagmus, significant to extreme sensitivity to light and absent or severely reduced color vision (color blindness). Color blindness can be so complete that many affected individuals have no comprehension of the concept of color, while others with less severe symptoms may be able to discern very saturated colors under certain lighting.
A confirmed diagnosis is needed for proper management of the condition. While there are observable features and several tests that can contribute to the diagnosis of ACHM, a molecular genetic test that successfully isolates the specific genetic cause of the condition is the most definitive.
While not all disease-causing mutations have yet been identified, statistically speaking, to date we know that genetic variations:
Studies have led to successful treatment of ACHM in animal models, thereby providing hope and optimism for the eventual development of human trials. For this reason, Project Chroma seeks to identify every person in the United States affected with ACHM and offer them state of the art genetic testing on a nonprofit basis through the John and Marcia Carver Nonprofit Genetic Testing Laboratory at the University of Iowa.
We maintain some additional information on ACHM. You may find this page useful if you're interested in ordering a clinical genetic test.