Cone monochromatism

Common Name(s)

Cone monochromatism

Blue cone (OPN1SW; {613522}) monochromatism is a rare X-linked congenital stationary cone dysfunction syndrome characterized by the absence of functional long wavelength-sensitive and medium wavelength-sensitive cones in the retina. Color discrimination is severely impaired from birth, and vision is derived from the remaining preserved blue (S) cones and rod photoreceptors. BCM typically presents with reduced visual acuity, pendular nystagmus, and photophobia. Patients often have myopia (review by {7:Gardner et al., 2009}). There is evidence for progression of disease in some BCM families ({14:Nathans et al., 1989}; {3:Ayyagari et al., 2000}; {13:Michaelides et al., 2005}).
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Cone monochromatism" 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 "Cone monochromatism" returned 5 free, full-text research articles on human participants. First 3 results:

Clinical utility gene card for: blue cone monochromatism.
 

Author(s): Susanne Kohl, Christian P Hamel

Journal: Eur. J. Hum. Genet.. 2011 Jun;19(6):.

 

Last Updated: 19 May 2011

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Rod and rod-driven function in achromatopsia and blue cone monochromatism.
 

Author(s): Anne Moskowitz, Ronald M Hansen, James D Akula, Susan E Eklund, Anne B Fulton

Journal: Invest. Ophthalmol. Vis. Sci.. 2009 Feb;50(2):950-8.

 

To evaluate rod photoreceptor and postreceptor retinal function in pediatric patients with achromatopsia (ACHR) and blue cone monochromatism (BCM) using contemporary electroretinographic (ERG) procedures.

Last Updated: 27 Jan 2009

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Quantitative analysis of OCT characteristics in patients with achromatopsia and blue-cone monochromatism.
 

Author(s): Daniel Barthelmes, Florian K Sutter, Malaika M Kurz-Levin, Martina M Bosch, Horst Helbig, G√ľnter Niemeyer, Johannes C Fleischhauer

Journal: Invest. Ophthalmol. Vis. Sci.. 2006 Mar;47(3):1161-6.

 

To quantify optical coherence tomography (OCT) images of the central retina in patients with blue-cone monochromatism (BCM) and achromatopsia (ACH) compared with healthy control individuals.

Last Updated: 28 Feb 2006

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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 "Cone monochromatism" returned 0 free, full-text review articles on human participants.

 
 
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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

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