Blue cone monochromatism

Blue cone monochromatism (BCM) is a rare inherited eye disorder that affects the cone cells in the retina of the eye. It is characterized by the absence or dysfunction of two of the three types of cone cells that are responsible for color vision.

Overview

BCM is a type of color blindness that primarily affects males. It is caused by mutations in the OPN1LW and OPN1MW genes, which provide instructions for making proteins found in the cone cells of the retina. These proteins are essential for normal color vision.

Symptoms

The main symptom of BCM is a severe reduction in color discrimination, particularly for red and green colors. This is because the affected individuals have only one type of functional cone cell, which is sensitive to blue light. Other symptoms may include nystagmus (involuntary eye movement), photophobia (light sensitivity), and reduced visual acuity.

Diagnosis

BCM is diagnosed through a comprehensive eye examination that includes a color vision test. Genetic testing can also be used to confirm the diagnosis by identifying mutations in the OPN1LW and OPN1MW genes.

Treatment

There is currently no cure for BCM. Treatment is focused on managing the symptoms and may include the use of tinted lenses to reduce light sensitivity and visual aids to improve visual acuity.

Research

Research into potential treatments for BCM is ongoing. Gene therapy, which involves replacing the faulty genes with healthy ones, is one area of research that shows promise.

See also

• Color blindness
• Cone cell
• Eye disorder
• Genetic disorder
• Gene therapy