/microphthalmia-brain atrophy syndrome

microphthalmia-brain atrophy syndrome

Rare Disease

MONDO:0012638

Also Known As

MCOPS10MOBA syndromesyndromic microphthalmia type 10MOBAmicrophthalmia and brain atrophymicrophthalmia syndromic 10microphthalmia, syndromic 10

Definition

Microphthalmia-brain atrophy (MOBA) syndrome is a rare genetic neurodegenerative disorder characterized by congenital microphthalmia, sunken eyes, blindness, microcephaly, severe intellectual disability, progressive spasticity, and seizures. Psychomotor development is normal in the first 6-8 months of life and thereafter declines rapidly and continuously. Brain MRI reveals progressive and extensive degenerative changes, especially cortex, cerebellum, brainstem, and corpus callosum atrophy, with complete loss of cerebral white matter.