Clinicopathological report of cerebroocular myopathy syndrome

Abstract

PURPOSE: To report a case of cerebroocular myopathy syndrome with a focal absence of the Descemet membrane. DESIGN: Clinicopathological case report. METHODS: A clinical and histopathologic examination of eye, brain, and viscera of a white male newborn of normal term, who died at 11 days of age with the diagnosis of cerebroocular myopathy syndrome. RESULTS: The autopsy revealed hazy left cornea, hypoplasia of the cerebellum, and corpus collusum with mild microcephaly. Microscopy of the left eye showed the additional findings of a central focal defect of the Descemet membrane with an absence of the posterior third of central corneal stroma and delicate fibrous strands connected to the iris. CONCLUSION: The absence of the Descemet membrane and the missing posterior corneal keratocytes as well as the fibrous strands connecting the iris are findings to be added to the previously reported signs of cerebro-ocular myopathy.