What is Achromatopsia?
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.
What are the symptoms?
See above
How quickly does vision fade?
Generally speaking, the vision loss associated with ACHM is stable throughout a person's life although it can vary depending on lighting conditions.
Is it an inherited disease?
Yes; Achromatopsia is a genetically heterogenous autosomal recessive inherited eye disease. Considered rare, it is estimated that there are fewer than 1 in 30,000 people living with ACHM.
Is there a genetic test available?
Yes. The John and Marcia Carver Nonprofit Genetic Testing Laboratory has released a clinical nonprofit test for Achromatopsia. See Genetic Tests We Offer
How can I order a genetic test for Achromatopsia?
To order this test, start by following this link.
Is there a clinical trial available for this particular condition?
Research regarding the eye and blinding eye diseases is ongoing and the answer to this question might change on any given day. Thankfully there are resources available today to assist anyone interested in monitoring progress.
Articles that may be of interest
Where can I learn more about Achromatopsia?
GeneTests is a publicly funded web site that provides medical genetics information. While primarily targeted to physicians, researchers and other healthcare providers, patients and their families interested in a reliable resource for their own research will find this up-to-date comprehensive web site an invaluable tool. See Achromatopsia as found on GeneTests.org
Note of Special Interest
Greetings,
It is my pleasure and honor to announce that the 2011 Achromatopsia Convention registration is now open! The Achromatopsia Convention will be August 1st-3rd in Chicago and will be hosted by the Chicago Lighthouse. For more details about the convention including the complete schedule, list of guest speakers and hotel information please visit the convention website at achromatopsiaconvention.org
If you have any questions about the convention please feel free to contact the planning committee using the "Contact" link on the convention website.
Please feel free to pass this message along to any colleagues, patients, etc. who might be interested in attending.
Thanks much,
Dave Goggin
Convention Planning Committee Moderator
If you have any specific questions about Achromatopsia, please consult your personal physician.
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