MACULAR DETACHMENT ASSOCIATED WITH ANOMALOUS OPTIC NERVES AND DURAL ECTASIA IN 49, XXXXY SYNDROME.
OBJECTIVE
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.


CONCLUSIONS
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.
Retina Consultants Ltd, Des Plaines, Illinois.
Amir R
AR
Hajrasouliha
Departments of Ophthalmology and Visual Sciences, and.|Neurology and Rehabilitation, University of Illinois, Chicago, Chicago, Illinois.
Heather E
HE
Moss
Division of Neuroradiology, Department of Medical Imaging, University of Toronto, Toronto, Ontario, Canada.
Pejman J
PJ
Maralani
Departments of Ophthalmology and Visual Sciences, and.
Lawrence
L
Kaufman
Departments of Ophthalmology and Visual Sciences, and.|Grassi Retina, Naperville, Illinois.
Michael A
MA
Grassi
D000015:Abnormalities, Multiple; D000782:Aneuploidy; D002493:Central Nervous System Diseases / Q000151:congenital* / Q000175:diagnosis; D002675:Child, Preschool; D041321:Chromosomes, Human, X / Q000235:genetics; D003937:Diagnosis, Differential; D004108:Dilatation, Pathologic; D004388:Dura Mater / Q000473:pathology*; D005451:Fluorescein Angiography; D005654:Fundus Oculi; D005820:Genetic Testing; D006801:Humans; D020547:Lateral Ventricles / Q000473:pathology; D008266:Macula Lutea / Q000473:pathology*; D008297:Male; D009898:Optic Disk / Q000002:abnormalities*; D009901:Optic Nerve Diseases / Q000151:congenital* / Q000175:diagnosis; D012163:Retinal Detachment / Q000175:diagnosis / Q000209:etiology*; D012729:Sex Chromosome Aberrations; D025064:Sex Chromosome Disorders / Q000175:diagnosis / Q000235:genetics*; D041623:Tomography, Optical Coherence