Achromatopsia 3

Synonyms

8

Overview

Achromatopsia 3 is a congenital, nonprogressive form of blindness. It is sometimes referred to as a rod monochromacy or stationary cone dystrophy. Symptoms are usually present at birth or shortly thereafter. Patients have pendular nystagmus, progressive lens opacities, severe photophobia, 'day' blindness, and, of course, color blindness. High myopia is a feature in some populations. Vision in daylight is often 20/200 or less but vision in dim light is somewhat better. The central scotoma often leads to eccentric fixation.

Symptoms

• Light sensitivity
• Total inability to distinguish colors - colorblindness
• Amaurosis
• Congenital complete achromatopsia
• Cataract
• Myopia - severe
• Horizontal pendular nystagmus

Treatment

No treatment is available but darkly tinted lenses can alleviate much of the photophobia. Low vision aids and vocational training should be offered. Refractive errors should, of course, be corrected and periodic examinations are especially important in children.

Resources

• NIH