Achromatopsia

Common Name(s)

Achromatopsia

Achromatopsia (ACHM) is a rare visual disorder caused by a defect in the retina, a light-sensitive layer of tissue that lines the inner surface of the eye. In people with ACHM, the structures responsible for detail and color vision, the cones, do not work properly. This condition is non-progressive and hereditary. Symptoms include decreased vision, color blindness, and light sensitivity.

Source: Advocacy organizations associated with the condition.

 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Achromatopsia" for support, advocacy or research.

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General Support Organizations

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How do you compare to others with this condition?

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Achromatopsia" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Achromatopsia" returned 45 free, full-text research articles on human participants. First 3 results:

Transient photoreceptor deconstruction by CNTF enhances rAAV-mediated cone functional rescue in late stage CNGB3-achromatopsia.
 

Author(s): András M Komáromy, Jessica S Rowlan, Amanda T Parton Corr, Shelby L Reinstein, Sanford L Boye, Ann E Cooper, Amaliris Gonzalez, Britt Levy, Rong Wen, William W Hauswirth, William A Beltran, Gustavo D Aguirre

Journal: Mol. Ther.. 2013 Jun;21(6):1131-41.

 

Achromatopsia is a genetic disorder of cones, and one of the most common forms is a channelopathy caused by mutations in the β-subunit, CNGB3, of the cone cyclic nucleotide-gated (CNG) channel. Recombinant adeno-associated virus of serotype 5 (rAAV5)-mediated gene transfer of human ...

Last Updated: 3 Jun 2013

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CNGA3 achromatopsia-associated mutation potentiates the phosphoinositide sensitivity of cone photoreceptor CNG channels by altering intersubunit interactions.
 

Author(s): Gucan Dai, Michael D Varnum

Journal: Am. J. Physiol., Cell Physiol.. 2013 Jul;305(2):C147-59.

 

Cyclic nucleotide-gated (CNG) channels are critical for sensory transduction in retinal photoreceptors and olfactory receptor cells; their activity is modulated by phosphoinositides (PIPn) such as phosphatidylinositol 4,5-bisphosphate (PIP2) and phosphatidylinositol 3,4,5-trisphosphate ...

Last Updated: 16 Jul 2013

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Achromatopsia" returned 0 free, full-text review articles on human participants.

 
 
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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Clinical and Genetic Characterization of Individuals With Achromatopsia
 

Status: Recruiting

Condition Summary: Achromatopsia

 

Last Updated: 26 Nov 2013

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