A child with Muscle-Eye-Brain disease - Ophthalmological and neurological characteristics

Purpose: To describe a child with Muscle-Eye-Brain disease (MEB), one of th ree types of congenital muscular dystrophy associated with ocular abnormali ties. Methods: Case report. Results: The child showed severe visual impairment due to progressive myopi a 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. Conclusion: Ophthalmological assessments are important to help to diagnose and follow children with congenital muscular dystrophy.