---
title: Aicardi syndrome
description: "Aicardi syndrome is a rare neurodevelopmental disorder almost exclusively affecting girls. It features a triad of agenesis of the corpus callosum, infantile spasms, and distinctive chorioretinal lacunae. ## Ocular findings Eye changes are central to diagnosis. - Multiple punched-out chorioretinal…"
url: "https://bluefinvision.com/knowledge-base/topics/conditions-diseases/aicardi-syndrome/"
updated: "2025-12-16"
category: "Conditions & Diseases"
---

# Aicardi syndrome

Aicardi syndrome is a rare neurodevelopmental disorder almost exclusively affecting girls. It features a triad of agenesis of the corpus callosum, infantile spasms, and distinctive chorioretinal lacunae.

## Ocular findings

Eye changes are central to diagnosis.

- Multiple punched-out chorioretinal lesions around the optic disc
- Optic nerve coloboma or hypoplasia and microphthalmia in some cases
- Nystagmus and reduced visual potential
- Often accompanied by cortical visual impairment

## Management

There is no cure; treatment is supportive.

- Control of seizures and optimisation of development
- Ophthalmic monitoring and low-vision support
- Genetic and psychological counselling for families
- Multidisciplinary rehabilitation with physiotherapy and special education