Microphthalmia and brain atrophy: a novel neurodegenerative disease.

OBJECTIVE

To delineate the features of a novel neurodegenerative disease.

METHODS

We report three children of three related families with congenital microphthalmia and blindness, and progressive spasticity, microcephaly, seizures, and profound mental retardation.

RESULTS

A magnetic resonance imaging scan was normal at birth. However, follow-up studies showed progressive atrophy involving the cerebral white matter and cortex, cerebellum, brainstem, and corpus callosum. The white matter changes extended into the subcortical region leaving only small islands of remaining cortical tissue. Known metabolic conditions involving white matter degeneration were excluded.

INTERPRETATION: We propose this to be a novel autosomal recessive neurodegenerative disorder to be coined MOBA (microphthalmia brain atrophy) disease.