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

Safety and Biodistribution Evaluation in Cynomolgus Macaques of rAAV2tYF-PR1.7-hCNGB3, a Recombinant AAV Vector for Treatment of Achromatopsia.
 

Author(s): Guo-jie Ye, Ewa Budzynski, Peter Sonnentag, T Michael Nork, Paul E Miller, Alok K Sharma, James N Ver Hoeve, Leia M Smith, Tara Arndt, Roberto Calcedo, Chantelle Gaskin, Paulette M Robinson, David R Knop, William W Hauswirth, Jeffrey D Chulay

Journal: Hum Gene Ther Clin Dev. 2016 Mar;27(1):37-48.

 

Applied Genetic Technologies Corporation (AGTC) is developing rAAV2tYF-PR1.7-hCNGB3, a recombinant adeno-associated viral (rAAV) vector expressing the human CNGB3 gene, for treatment of achromatopsia, an inherited retinal disorder characterized by markedly reduced visual acuity, extreme ...

Last Updated: 23 Mar 2016

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Safety and Biodistribution Evaluation in CNGB3-Deficient Mice of rAAV2tYF-PR1.7-hCNGB3, a Recombinant AAV Vector for Treatment of Achromatopsia.
 

Author(s): Guo-jie Ye, Ewa Budzynski, Peter Sonnentag, T Michael Nork, Paul E Miller, Leslie McPherson, James N Ver Hoeve, Leia M Smith, Tara Arndt, Savitri Mandapati, Paulette M Robinson, Roberto Calcedo, David R Knop, William W Hauswirth, Jeffrey D Chulay

Journal: Hum Gene Ther Clin Dev. 2016 Mar;27(1):27-36.

 

Applied Genetic Technologies Corporation (AGTC) is developing rAAV2tYF-PR1.7-hCNGB3, a recombinant adeno-associated virus (rAAV) vector expressing the human CNGB3 gene, for treatment of achromatopsia, an inherited retinal disorder characterized by markedly reduced visual acuity, extreme ...

Last Updated: 23 Mar 2016

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Cone-Specific Promoters for Gene Therapy of Achromatopsia and Other Retinal Diseases.
 

Author(s): Guo-Jie Ye, Ewa Budzynski, Peter Sonnentag, T Michael Nork, Nader Sheibani, Zafer Gurel, Sanford L Boye, James J Peterson, Shannon E Boye, William W Hauswirth, Jeffrey D Chulay

Journal: Hum. Gene Ther.. 2016 Jan;27(1):72-82.

 

Adeno-associated viral (AAV) vectors containing cone-specific promoters have rescued cone photoreceptor function in mouse and dog models of achromatopsia, but cone-specific promoters have not been optimized for use in primates. Using AAV vectors administered by subretinal injection, ...

Last Updated: 20 Jan 2016

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

Achromatopsia: on the doorstep of a possible therapy.
 

Author(s): Ditta Zobor, Gergely Zobor, Susanne Kohl

Journal: Ophthalmic Res.. 2015 ;54(2):103-8.

 

Achromatopsia (ACHM) is a rare autosomal recessive inherited retinal disorder with an incidence of approximately 1 in 30,000. It presents at birth or early infancy and is typically characterized by reduced visual acuity, nystagmus, photophobia, and very poor or absent color vision. ...

Last Updated: 4 Sep 2015

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Achromatopsia: case presentation and literature review emphasising the value of spectral domain optical coherence tomography.
 

Author(s): Xiao Xi Yu, Robert E Rego, Diana Shechtman

Journal: Clin Exp Optom. 2014 Nov;97(6):507-10.

 

A literature review and case presentation are used to discuss the diagnostic value of spectral domain optical coherence tomography (SD-OCT) in the assessment and management of congenital achromatopsia. A 24-year-old Hispanic man presented to the clinic with a longstanding history ...

Last Updated: 21 Oct 2014

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[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

Gene Therapy for Achromatopsia (CNGB3)
 

Status: Recruiting

Condition Summary: Achromatopsia

 

Last Updated: 22 Feb 2017

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Safety and Efficacy Trial of AAV Gene Therapy in Patients With CNGA3 Achromatopsia
 

Status: Not yet recruiting

Condition Summary: Achromatopsia

 

Last Updated: 7 Mar 2017

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Safety and Efficacy Trial of AAV Gene Therapy in Patients With CNGB3 Achromatopsia
 

Status: Recruiting

Condition Summary: Achromatopsia

 

Last Updated: 7 Mar 2017

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