Achromatopsia is a rare inherited retinal disorder where cone photoreceptors do not function properly. People are born with very poor colour discrimination and reduced visual acuity.
Symptoms and diagnosis
Signs usually appear in infancy or early childhood.
- Marked light sensitivity, nystagmus, and blurred central vision
- Difficulty distinguishing colours, often seeing mainly in shades of grey
- Characteristic findings on electroretinography and genetic testing
- Stable or slowly progressive course depending on mutation
Management
There is no widely available cure yet, but several supportive strategies help.
- Dark or tinted lenses and caps to reduce glare and improve comfort
- Low-vision aids, large print, and educational support
- Genetic counselling for families and access to clinical trials where appropriate
- Regular follow-up to monitor any progression and update visual aids
