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Novel Disorder Includes Microphthalmia, Brain Atrophy

Disorder may be caused by a defect in a gene that regulates eye development

MONDAY, April 24 (HealthDay News) -- Norwegian and Dutch researchers have identified a new autosomal recessive neurodegenerative disorder called microphthalmia brain atrophy (MOBA) disease that is most likely caused by a mutation affecting eye development during gestation, according to a study published in the April issue of the Annals of Neurology.

Oivind J. Kanavin, M.D., of Ulleval University Hospital in Oslo, Norway, and colleagues studied three Pakistani children born with microphthalmia and blindness who subsequently developed progressive spasticity, microcephaly, seizures and profound mental retardation.

Although the children had normal magnetic resonance imaging scans at birth, follow-up studies showed progressive atrophy involving the cerebral white matter and cortex, cerebellum, brainstem and corpus callosum, with white matter changes extending into the subcortical region and leaving only small islands of remaining cortical tissue. The researchers excluded known metabolic conditions involving white matter degeneration.

"The underlying genetic defect currently is unknown," the authors state. "The gene involved is most likely an important regulator of eye development in fetal life and becomes of vital importance for neuronal and/or axonal functioning after birth."

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