Blue-cone monochromacy - Wikipedia
Blue cone monochromacy (BCM) is an inherited eye disease that causes severe color blindness, poor visual acuity, nystagmus, hemeralopia, and photophobia due to the absence of functional red (L) and green (M) cone photoreceptor cells in the retina.
Blue cone monochromacy | About the Disease | GARD - Genetic …
Blue cone monochromatism (BCM) is a recessive X-linked disease characterized by severely impaired color discrimination, low visual acuity, nystagmus, and photophobia, due to dysfunction of the red (L) and green (M) cone photoreceptors.
What is Blue Cone Monochromacy? | BCM Families Foundation
Blue Cone Monochromacy (BCM) is a rare genetic retinal disorder estimated to affect 1 in 100,000 people. It is an inherited retinal degeneration (IRD) caused by mutations in the OPN1LW/OPN1MW gene cluster, encoding long (L)- and middle (M)-wavelength sensitive (i.e. red-green) opsins [38,39,41] of the cone photoreceptor cells in the retina.
Blue Cone Monochromacy | Hereditary Ocular Diseases
This is a recessive X-linked disorder in which males are primarily affected. The carrier mother has normal color vision but carries the defective gene on one of her two X chromosomes and can expect on average that half of her male offspring will inherit blue cone monochromacy.
blue cone monochromacy - National Organization for Rare …
Blue cone monochromatism (BCM) is a recessive X-linked disease characterized by severely impaired color discrimination, low visual acuity, nystagmus, and photophobia, due to dysfunction of the red (L) and green (M) cone photoreceptors. BCM is …
BCM Families Foundation | Therapy, research & support for Blue Cone ...
Explore therapies, research, and support for Blue Cone Monochromacy with BCM Families Foundation. Together, making a brighter future possible.
Blue Cone Monochromacy | Hereditary Ocular Diseases
Vision seems to be dependent solely on blue cones and rod photoreceptors. The ERG always shows relatively normal rod function whereas the cones are usually dysfunctional. In some families, however, there is evidence of disease progression …
Orphanet: Blue cone monochromatism
Blue cone monochromatism (BCM) is a recessive X-linked disease characterized by severely impaired color discrimination, low visual acuity, nystagmus, and photophobia, due to dysfunction of the red (L) and green (M) cone photoreceptors. BCM is as an incomplete form of achromatopsia (see this term).
Is Color Blindness Genetic and How it’s Inherited?
Color blindness, also known as color vision deficiency (CVD) or Daltonism, is a visual impairment characterized by the inability or reduced ability to perceive certain colors. Color vision relies on specialized photoreceptor cells known as cone cells, located within the retina of the eye.
Blue cone monochromacy and gene therapy - ScienceDirect
Jul 1, 2023 · Blue cone monochromacy (BCM) is a congenital vision disorder characterized by complete loss or severely reduced long- and middle-wavelength cone function, caused by mutations in the OPN1LW/OPN1MW gene cluster on the X-chromosome. BCM patients typically suffer from poor visual acuity, severely impaired color discrimination, myopia, and nystagmus.