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Ocular Features of Cerebro-Costo-Mandibular Syndrome
Zoya Hameed1, Simon Taylor2, Dan Lindfield1
1Royal Surrey County Hospital.
Abstract:
Cerebro-costo-mandibular syndrome (CCMS) is a rare hereditary disorder characterized by micrognathia, posterior rib gaps, and secondary developmental delay. Patients often require ventilation and feeding support throughout life. We describe the first reported ophthalmic findings of CCMS and propose that defects in choroidal permeability lead to chronic macular edema and refractory aqueous misdirection syndrome. Here we discuss the medical and surgical management concerns of recurrent angle closure and raised intraocular pressure in a CCMS patient.
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