Congenital achromatopsia is an inherited cone disorder in which colour vision is severely reduced or absent from birth, and visual acuity is significantly impaired. Affected individuals often have nystagmus, light sensitivity, and difficulty seeing fine detail.
Features
Because cone function is markedly abnormal, vision is better in low light than in bright conditions, and colours appear washed out or indistinguishable. The condition is typically non-progressive or only slowly progressive.
- Usually inherited in an autosomal recessive pattern
- Visual acuity is often in the reduced range despite corrective lenses
- Nystagmus and eccentric fixation are common
- Colour vision testing shows profound deficits across all axes
Management
Management aims to optimise remaining vision and reduce light sensitivity using tinted lenses, hats, and controlled lighting. Low vision services play an important role in supporting education and daily living.
- Early diagnosis allows timely educational planning and visual support
- High-contrast print and electronic magnification help with reading
- Genetic counselling informs families about inheritance and recurrence risks
- Research into gene therapy is ongoing for some genetic subtypes
