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.

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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 44 free, full-text research articles on human participants. First 3 results:

Genotype-dependent variability in residual cone structure in achromatopsia: toward developing metrics for assessing cone health.
 

Author(s): Adam M Dubis, Robert F Cooper, Jonathan Aboshiha, Christopher S Langlo, Venki Sundaram, Benjamin Liu, Frederick Collison, Gerald A Fishman, Anthony T Moore, Andrew R Webster, Alfredo Dubra, Joseph Carroll, Michel Michaelides

Journal:

 

Gene therapy trials for inherited photoreceptor disorders are planned. Anatomical metrics to select the best candidates and outcomes are needed. Adaptive optics (AO) imaging enables visualization of photoreceptor structure, although analytical tools are lacking. Here we present criteria ...

Last Updated: 18 Nov 2014

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CNGB3-achromatopsia clinical trial with CNTF: diminished rod pathway responses with no evidence of improvement in cone function.
 

Author(s): Wadih M Zein, Brett G Jeffrey, Henry E Wiley, Amy E Turriff, Santa J Tumminia, Weng Tao, Ronald A Bush, Dario Marangoni, Rong Wen, Lisa L Wei, Paul A Sieving

Journal:

 

Ciliary neurotrophic factor (CNTF) protects rod photoreceptors from retinal degenerative disease in multiple nonhuman models. Thus far, CNTF has failed to demonstrate rod protection in trials for human retinitis pigmentosa. Recently, CNTF was found to improve cone photoreceptor function ...

Last Updated: 9 Oct 2014

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Flicker cone function in normal and day blind sheep: a large animal model for human achromatopsia caused by CNGA3 mutation.
 

Author(s): Raaya Ezra-Elia, Eyal Banin, Hen Honig, Alexander Rosov, Alexey Obolensky, Edward Averbukh, William W Hauswirth, Elisha Gootwine, Ron Ofri

Journal: Doc Ophthalmol. 2014 Dec;129(3):141-50.

 

Recently we reported on day blindness in sheep caused by a mutation in the CNGA3 gene, thus making affected sheep a naturally occurring large animal model for therapeutic intervention in CNGA3 achromatopsia patients. The purpose of this study was to characterize flicker cone function ...

Last Updated: 4 Nov 2014

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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 1 free, full-text review articles on human participants. First 3 results:

[Gene replacement therapy in achromatopsia type 2].
 

Author(s): R Mühlfriedel, N Tanimoto, M W Seeliger

Journal: Klin Monbl Augenheilkd. 2014 Mar;231(3):232-40.

 

Achromatopsia is an autosomal recessive inherited retinal disease caused by a complete loss of cone photoreceptor function. About 80 % of achromatopsia patients show mutations in the alpha or beta subunit (A3 and B3) of the cGMP controlled cation channel CNG (cyclic nucleotide-gated ...

Last Updated: 24 Mar 2014

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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: 12 Jan 2015

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Inherited Retinal Degenerative Disease Registry
 

Status: Recruiting

Condition Summary: Eye Diseases Hereditary; Retinal Disease; Achromatopsia; Bardet-Biedl Syndrome; Bassen-Kornzweig Syndrome; Batten Disease; Best Disease; Choroidal Dystrophy; Choroideremia; Cone Dystrophy; Cone-Rod Dystrophy; Congenital Stationary Night Blindness; Enhanced S-Cone Syndrome; Fundus Albipunctatus; Goldmann-Favre Syndrome; Gyrate Atrophy; Juvenile Macular Degeneration; Kearns-Sayre Syndrome; Leber Congenital Amaurosis; Refsum Syndrome; Retinitis Pigmentosa; Retinitis Punctata Albescens; Retinoschisis; Rod-Cone Dystrophy; Rod Dystrophy; Rod Monochromacy; Stargardt Disease; Usher Syndrome

 

Last Updated: 1 May 2015

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