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

A Quantitative and Qualitative Exploration of Photoaversion in Achromatopsia.
 

Author(s): Jonathan Aboshiha, Neruban Kumaran, Angelos Kalitzeos, Chris Hogg, Gary Rubin, Michel Michaelides

Journal: Invest. Ophthalmol. Vis. Sci.. 2017 Jul;58(9):3537-3546.

 

Photoaversion (PA) is a disabling and ubiquitous feature of achromatopsia (ACHM). We aimed to help define the characteristics of this important symptom, and present the first published assessment of its impact on patients' lives, as well as quantitative and qualitative PA assessments.

Last Updated: 17 Jul 2017

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Residual Foveal Cone Structure in CNGB3-Associated Achromatopsia.
 

Author(s): Christopher S Langlo, Emily J Patterson, Brian P Higgins, Phyllis Summerfelt, Moataz M Razeen, Laura R Erker, Maria Parker, Frederick T Collison, Gerald A Fishman, Christine N Kay, Jing Zhang, Richard G Weleber, Paul Yang, David J Wilson, Mark E Pennesi, Byron L Lam, John Chiang, Jeffrey D Chulay, Alfredo Dubra, William W Hauswirth, Joseph Carroll,

Journal: Invest. Ophthalmol. Vis. Sci.. 2016 Aug;57(10):3984-95.

 

Congenital achromatopsia (ACHM) is an autosomal recessive disorder in which cone function is absent or severely reduced. Gene therapy in animal models of ACHM have shown restoration of cone function, though translation of these results to humans relies, in part, on the presence of ...

Last Updated: 2 Aug 2016

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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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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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Clinical Trial Information This information is provided by ClinicalTrials.gov

Gene Therapy for Achromatopsia (CNGB3)
 

Status: Recruiting

Condition Summary: Achromatopsia

 

Last Updated: 7 Sep 2017

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Long-Term Follow-Up Gene Therapy Study for Achromatopsia CNGB3
 

Status: Recruiting

Condition Summary: Achromatopsia

 

Last Updated: 7 Sep 2017

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

Status: Recruiting

Condition Summary: Achromatopsia

 

Last Updated: 27 Jun 2017

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