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

Mutation of ATF6 causes autosomal recessive achromatopsia.
 

Author(s): Muhammad Ansar, Regie Lyn P Santos-Cortez, Muhammad Arif Nadeem Saqib, Fareeha Zulfiqar, Kwanghyuk Lee, Naeem Mahmood Ashraf, Ehsan Ullah, Xin Wang, Sundus Sajid, Falak Sher Khan, Muhammad Amin-ud-Din, , Joshua D Smith, Jay Shendure, Michael J Bamshad, Deborah A Nickerson, Abdul Hameed, Saima Riazuddin, Zubair M Ahmed, Wasim Ahmad, Suzanne M Leal

Journal: Hum. Genet.. 2015 Sep;134(9):941-50.

 

Achromatopsia (ACHM) is an early-onset retinal dystrophy characterized by photophobia, nystagmus, color blindness and severely reduced visual acuity. Currently mutations in five genes CNGA3, CNGB3, GNAT2, PDE6C and PDE6H have been implicated in ACHM. We performed homozygosity mapping ...

Last Updated: 8 Aug 2015

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Mutations in the unfolded protein response regulator ATF6 cause the cone dysfunction disorder achromatopsia.
 

Author(s): Susanne Kohl, Ditta Zobor, Wei-Chieh Chiang, Nicole Weisschuh, Jennifer Staller, Irene Gonzalez Menendez, Stanley Chang, Susanne C Beck, Marina Garcia Garrido, Vithiyanjali Sothilingam, Mathias W Seeliger, Franco Stanzial, Francesco Benedicenti, Francesca Inzana, Elise Héon, Ajoy Vincent, Jill Beis, Tim M Strom, Günther Rudolph, Susanne Roosing, Anneke I den Hollander, Frans P M Cremers, Irma Lopez, Huanan Ren, Anthony T Moore, Andrew R Webster, Michel Michaelides, Robert K Koenekoop, Eberhart Zrenner, Randal J Kaufman, Stephen H Tsang, Bernd Wissinger, Jonathan H Lin

Journal: Nat. Genet.. 2015 Jul;47(7):757-65.

 

Achromatopsia (ACHM) is an autosomal recessive disorder characterized by color blindness, photophobia, nystagmus and severely reduced visual acuity. Using homozygosity mapping and whole-exome and candidate gene sequencing, we identified ten families carrying six homozygous and two ...

Last Updated: 26 Jun 2015

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Retinal Development in Infants and Young Children with Achromatopsia.
 

Author(s): Helena Lee, Ravi Purohit, Viral Sheth, Rebecca J McLean, Susanne Kohl, Bart P Leroy, Venki Sundaram, Michel Michaelides, Frank A Proudlock, Irene Gottlob

Journal: Ophthalmology. 2015 Oct;122(10):2145-7.

 

Last Updated: 24 Sep 2015

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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: 28 Dec 2015

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

Status: Not yet recruiting

Condition Summary: Achromatopsia

 

Last Updated: 4 Feb 2016

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Last Updated: 30 Nov 2015

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