---
title: Achromatopsia
description: "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…"
url: "https://bluefinvision.com/knowledge-base/topics/conditions-diseases/achromatopsia/"
updated: "2025-12-16"
category: "Conditions & Diseases"
---

# Achromatopsia

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