Blue cone monochromatism.

@article{Weiss1989BlueCM,
  title={Blue cone monochromatism.},
  author={Avery H. Weiss and William R. Biersdorf},
  journal={Journal of pediatric ophthalmology and strabismus},
  year={1989},
  volume={26 5},
  pages={
          218-23
        }
}
Blue cone monochromatism (BCM) is a subtype of achromatopsia in which the blue cone mechanism predominates. Each of the four patients in this study had BCM proven by their having peak spectral sensitivities in the blue region of the visible spectrum (near 440 nm). Clinically, the diagnosis was suspected because of x-linked inheritance, the presence of acuities better than 20/200 in two patients and myopia ranging from -1.75 to -15.00 diopters in three patients. Congenital nystagmus was the… 

Blue cone monochromatism: a phenotype and genotype assessment with evidence of progressive loss of cone function in older individuals

The MR test is a useful method of detecting BCM across a wide range of age groups; residual tritan colour discrimination is clearly demonstrated and allows BCM to be distinguished from rod monochromatism.

Usefulness of handheld electroretinogram system for diagnosing blue-cone monochromatism in children

S-cone ERG of RETeval®, was helpful in diagnosing with minimal invasion BCM in childhood patients and led to a diagnosis of BCM using S-cone electroretinograms recorded with RETeval® Complete.

Blue Cone Monochromatism with Foveal Hypoplasia Caused by the Concomitant Effect of Variants in OPN1LW/OPN1MW and GPR143 Genes

This is the first case of foveal hypoplasia in a BCM patient and of mild clinical affection in a female carrier caused by the concomitant effect of variants in OPN1LW/OPN1MW and GPR143 genes, thus as the result of the simultaneous action of two independent genetic defects.

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

Quantitative analysis of OCT imaging can be useful in differentiating retinal diseases affecting photoreceptors, and reveals distinct patterns for controls subjects and patients with ACH and BCM, respectively.

Blue cone monochromacy: Causative mutations and associated phenotypes

Two of the BCM-causing family genotypes identified in this study comprised different hybrid genes, each of which contained the commonly described C203R inactivating mutation, which is the first report of slow progression associated with this class of mutation in the L or M opsin genes in BCM.

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

Results of this study provide evidence that deficits in rod and rod-mediated function occur in the primary cone dysfunction syndromes ACHR and BCM.

Eye movement abnormalities in carriers of blue-cone monochromatism.

  • I. Gottlob
  • Medicine
    Investigative ophthalmology & visual science
  • 1994
Abnormal eye movements are described for the first time in carriers of blue-cone monochromatism and is similar to the nystagmus reported in BCM, which is intrinsic to the disease and can appear independently of the visual defect.

Oligocone trichromasy – a rare form of incomplete monochromatism

Differential diagnosis includes all diseases associated with congenital nystagm, such as aniridia, diseases of the optic nerve, albinism and all forms of hereditary cone dysfunction, cone dystrophies and complete and incomplete congenital stationary monochromatism.

Blue cone monochromatism in a female due to skewed X-inactivation

The present case illustrates that females may develop symptoms of recessive X-linked eye diseases in rare cases and is presented a female with clinically manifested BCM.