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
