The light sensitive cells in the retina are called rods (useful in dim vision) and cones (used for color vision). Gene mutations can impact either or both types. Those that cause a dysfunction in cones result in defective color vision of various types, sometimes called colorblindness.
This is a form of inherited colorblindness in which no color is perceived. At least 4 mutations cause achromatopsia and achromatopsia 2 accounts for about one-quarter of cases with complete color blindness.
This is a congenital, nonprogressive disorder with symptoms often notable at birth or soon thereafter. These include nystagmus (dancing of the eyes), extreme sensitivity to light and, of course, no perception of color. Farsightedness is often present. Vision is generally better in dim light which is why it is sometimes called ‘day blindness’. However, the majority of patients are legally blind. There are no systemic abnormalities.
This is an autosomal recessive condition in which two clinically normal parents each contribute the mutation to their child. Achromatopsia 2 requires the presence of two mutations. Each child born to such parents has a 25% risk of inheriting this disease.
The diagnosis is usually made by an ophthalmologist and no systemic abnormalities are associated. Most individuals have 20/200 or worse vision but complete blindness does not occur. This is not a progressive disorder. Glasses for nearsightedness and astigmatism should be worn and these should be darkly tinted for daytime use. Red-colored contact lenses, low vision aids and vocational training can be helpful. Children especially should have periodic examinations to ensure that their glasses are optimized. Life expectancy is normal.