Amir R Hajrasouliha1, Heather E Moss2,3, Pejman J Maralani4, Lawrence Kaufman2, Michael A Grassi2,5. 1. Retina Consultants Ltd, Des Plaines, Illinois. 2. Departments of Ophthalmology and Visual Sciences, and. 3. Neurology and Rehabilitation, University of Illinois, Chicago, Chicago, Illinois. 4. Division of Neuroradiology, Department of Medical Imaging, University of Toronto, Toronto, Ontario, Canada. 5. Grassi Retina, Naperville, Illinois.
Abstract
PURPOSE: To present a case of a patient with XXXXY syndrome, anomalous optic nerves, and dural ectasia in conjunction with macular detachment. METHODS: Case report. RESULTS: A 3-year-old boy with XXXXY chromosomal abnormality presented with bilateral maculopathy. On evaluation, he was found to have anomalous optic disks with serous detachment of the left eye. Magnetic resonance imaging of the brain revealed bilateral optic nerve dural ectasia without evidence of elevated intracranial pressure. CONCLUSION: XXXXY syndrome, like the related condition of Klinefelter syndrome, can manifest with ocular abnormalities. In the present case, the dural ectasia may have facilitated access of cerebrospinal fluid through anomalous optic nerves, resulting in neurosensory detachment.
PURPOSE: To present a case of a patient with XXXXY syndrome, anomalous optic nerves, and dural ectasia in conjunction with macular detachment. METHODS: Case report. RESULTS: A 3-year-old boy with XXXXY chromosomal abnormality presented with bilateral maculopathy. On evaluation, he was found to have anomalous optic disks with serous detachment of the left eye. Magnetic resonance imaging of the brain revealed bilateral optic nerve dural ectasia without evidence of elevated intracranial pressure. CONCLUSION:XXXXY syndrome, like the related condition of Klinefelter syndrome, can manifest with ocular abnormalities. In the present case, the dural ectasia may have facilitated access of cerebrospinal fluid through anomalous optic nerves, resulting in neurosensory detachment.
Authors: David S Zumbro; Lee M Jampol; James C Folk; Mildred M G Olivier; Susan Anderson-Nelson Journal: Am J Ophthalmol Date: 2007-05-09 Impact factor: 5.258