Achromatopsia and Rod/Cone Dystrophy

Mild changes in pigmentation in the macula area of an individual with achromatopsia.

Mild changes in pigmentation in the macula area of an individual with achromatopsia.

The retina, the rear membrane of the eye that converts the image inside the eye into neural impulses that are transmitted to the brain, contains photoreceptor cells called rods and cones. Rods, which work most well in low light and are sensitive to motion, are mostly concentrated in the periphery of the retina. Cones, which are mostly concentrated in the central macular area, are most sensitive in bright light and provide our color and detail vision. We read using the macula.

Individuals who are born with achromatopsia (lack of color vision) have cones that do not function properly, leaving them with reduced visual acuity, reduced color vision and difficulty seeing in bright light. The degree of visual impairment can vary between “incomplete achromatopsia” where some color vision is retained and visual acuity may be as good as 20/80, or “complete achromatopsia” where none of the cones are functioning, there is no color vision, and visual acuity may be 20/200 or worse.

Individuals with achromatopsia often show mild to moderate changes in the macula area of the retina. However, especially early in the disease there may be no obvious changes in the appearance of the retina. Individuals with Achromatopsia often have a pendular oscillating movement of the eyes called nystagmus. Symptoms of achromatopsia do not worsen over time and do not typically lead to blindness. Researchers have discovered several genes that may cause achromatopsia, however the CNGB3 is known to cause approximately 50% of known cases.

Low Vision care can make a big difference

Low vision care can be very effective to help individuals with Achromatopsia to lead very normal lives. Vision loss from Achromatopsia responds very well to magnification which can make reading, seeing signs, faces, the computer, TV and even driving a possibility.

There is a wide range of optical, electronic and software magnification options to address virtually every need. Every individual with Achromatopsia should have a low vision examination by a doctor skilled in low vision rehabilitation to help identify the most appropriate options to enhance their visual functioning, academic and vocational potential and their personal quality of life.

Achromatopsia is also known as:

  • Stationary Cone Dystrophy
  • Rod Monochromatism