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

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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 58 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 07;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: 31 Dec 1969

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REPEATABILITY AND LONGITUDINAL ASSESSMENT OF FOVEAL CONE STRUCTURE IN CNGB3-ASSOCIATED ACHROMATOPSIA.
 

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

Journal: Retina (Philadelphia, Pa.). 2017 Oct;37(10):1956-1966.

 

Congenital achromatopsia is an autosomal recessive disease causing substantial reduction or complete absence of cone function. Although believed to be a relatively stationary disorder, questions remain regarding the stability of cone structure over time. In this study, the authors ...

Last Updated: 31 Dec 1969

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Achromatopsia mutations target sequential steps of ATF6 activation.
 

Author(s): Wei-Chieh Chiang, Priscilla Chan, Bernd Wissinger, Ajoy Vincent, Anna Skorczyk-Werner, Maciej R Krawczyński, Randal J Kaufman, Stephen H Tsang, Elise Héon, Susanne Kohl, Jonathan H Lin

Journal: Proc. Natl. Acad. Sci. U.S.A.. 2017 01;114(2):400-405.

 

Achromatopsia is an autosomal recessive disorder characterized by cone photoreceptor dysfunction. We recently identified activating transcription factor 6 (ATF6) as a genetic cause of achromatopsia. ATF6 is a key regulator of the unfolded protein response. In response to endoplasmic ...

Last Updated: 31 Dec 1969

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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: 31 Dec 1969

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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: 31 Dec 1969

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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: 31 Dec 1969

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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: 15 Dec 2017

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

Status: Recruiting

Condition Summary: Achromatopsia

 

Last Updated: 15 Dec 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: 11 Oct 2017

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