Blue Cone Monochromacy (BCM), also known as X-linked Achromatopsia, is a rare genetic disease of the retina that almost exclusively affects males (with an incidence of 1 in 100,000 individuals).
It is a hereditary condition, and manifests itself with a partial dysfunction of the cones of the retina linked to the X chromosome.
- Impaired vision or poor visual acuity, between 20/200 and 20/40 (poor detail vision);
- Intolerance to light (photophobia);
- Poor ability or inability to distinguish colours;
- Infantile nystagmus, which in some cases persists into adulthood (involuntary rhythmical, repetitive eye movement);
- Myopia, severe myopia or other refractive errors
Blue cone monochromacy is considered a stationary (non-progressive) disease, although there is evidence of disease progression with macular degeneration in many patients.
There is no cure for blue cone monochromacy; however, the efficacy and safety of various prospective treatments are currently being evaluated. Gene therapy is actually the most promising one: allowing the repair and proper functioning of retinal photoreceptor cells in response to the instructions associated with the inserted healthy gene.
Other treatments include:
- Corrective visual aids and personalized vision therapy provided by Low Vision Specialists may help patients correct glare and optimize their remaining visual acuity.
- Tinted lenses for photophobia allow for greater visual comfort.
- A magenta (mixture of red and blue) tint allows for best visual acuity since it protects the rods from saturation while allowing the blue cones to be maximally stimulated.
BCM Families Foundation is the only non-profit organization totally dedicated to the cure of BCM. They accept donation for promising medical research about treatment or the cure of BCM.