UniProtKB/Swiss-Prot
:
75
Blue cone monochromacy: 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. Cone dystrophy 5: A X-linked cone dystrophy. Cone dystrophies are retinal dystrophies characterized by progressive degeneration of the cone photoreceptors with preservation of rod function, as indicated by electroretinogram. However, some rod involvement may be present in some cone dystrophies, particularly at late stage. Affected individuals suffer from photophobia, loss of visual acuity, color vision and central visual field. Another sign is the absence of macular lesions for many years. Cone dystrophies are distinguished from the cone-rod dystrophies in which some loss of peripheral vision also occurs.
MalaCards based summary
:
Blue Cone Monochromacy, also known as
blue cone monochromatism, is related to
tritanopia and
achromatopsia, and has symptoms including
photophobia An important gene associated with Blue Cone Monochromacy is
OPN1LW (Opsin 1, Long Wave Sensitive), and among its related pathways/superpathways are
Metabolism of fat-soluble vitamins and
Phototransduction. Affiliated tissues include
retina,
eye and
breast, and related phenotypes are
visual impairment and
abnormality of retinal pigmentation
Disease Ontology
:
12
An achromatopsia that is characterized by severely impaired color discrimination, low visual acuity, nystagmus, photophobia due to the absence of functional long wavelength-sensitive and medium wavelength-sensitive cones in the retina and has material basis in recessive X-linked inheritance.
NIH Rare Diseases
:
53
Blue cone monochromatism is an inherited vision disorder. In this condition, the light sensitive cells in the eye used for color vision (cones) are affected. There are three types of cones that respond to one of three colors: red, green, and blue. When people have blue cone monochromatism, both the red and green cones do not function properly, while the blue cones work normally. Signs and symptoms may include impaired color vision, low visual acuity (clarity or sharpness), photophobia (light sensitivity), myopia (nearsightedness), and nystagmus (fast, uncontrollable movements of the eye). Blue cone monochromatism is caused by mutations in either the OPN1LW or the OPN1MW gene(s) and is inherited in an X-linked manner. There is no cure for this condition; however, there may be ways to manage the symptoms, such as using special glasses or contact lenses and low vision aids.
OMIM
:
57
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 Gardner et al., 2009). There is evidence for progression of disease in some BCM families (Nathans et al., 1989; Ayyagari et al., 2000; Michaelides et al., 2005).
(303700)
Wikipedia
:
76
Monochromacy (from Greek mono, meaning "one "and chromo, meaning "color") is the ability of organisms or...
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