A child with muscle-eye-brain disease. Ophthalmological and neurological characteristics.

OBJECTIVE

To describe a child with Muscle-Eye-Brain disease (MEB), one of three types of congenital muscular dystrophy associated with ocular abnormalities.

METHODS

Case report.

RESULTS

The child showed severe visual impairment due to progressive myopia and retinal degeneration, a pachygyria-type of migration disorder of the brain with a nodular cortical surface, i.e. cobblestone cortex, as well as muscular weakness and severe mental retardation.

CONCLUSIONS

Ophthalmological assessments are important to help to diagnose and follow children with congenital muscular dystrophy.