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.

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:

Identification of novel mutations by targeted exome sequencing and the genotype-phenotype assessment of patients with achromatopsia.
 

Author(s): Fen-Fen Li, Xiu-Feng Huang, Jie Chen, Xu-Dong Yu, Mei-Qin Zheng, Fan Lu, Zi-Bing Jin, De-Kang Gan

Journal:

 

Achromatopsia (ACHM) is a severe congenital autosomal recessive retinal disorder caused by loss of cone photoreceptors. Here, we aimed to determine the underlying genetic lesions and phenotypic correlations in two Chinese families with ACHM.

Last Updated: 23 Oct 2015

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Canine CNGA3 Gene Mutations Provide Novel Insights into Human Achromatopsia-Associated Channelopathies and Treatment.
 

Author(s): Naoto Tanaka, Emily V Dutrow, Keiko Miyadera, Lucie Delemotte, Christopher M MacDermaid, Shelby L Reinstein, William R Crumley, Christopher J Dixon, Margret L Casal, Michael L Klein, Gustavo D Aguirre, Jacqueline C Tanaka, Karina E Guziewicz

Journal:

 

Cyclic nucleotide-gated (CNG) ion channels are key mediators underlying signal transduction in retinal and olfactory receptors. Genetic defects in CNGA3 and CNGB3, encoding two structurally related subunits of cone CNG channels, lead to achromatopsia (ACHM). ACHM is a congenital, ...

Last Updated: 26 Sep 2015

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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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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 2 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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[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

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

Status: Recruiting

Condition Summary: Achromatopsia

 

Last Updated: 29 Apr 2016

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Last Updated: 30 Nov 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: 21 Mar 2016

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