MACULAR DETACHMENT ASSOCIATED with ANOMALOUS OPTIC NERVES and DURAL ECTASIA in 49, XXXXY SYNDROME

Amir R. Hajrasouliha, Heather E. Moss, Pejman J. Maralani, Lawrence Kaufman, Michael A. Grassi

Research output: Contribution to journalArticle

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.

Original languageEnglish (US)
Pages (from-to)39-41
Number of pages3
JournalRetinal Cases and Brief Reports
Volume12
Issue number1
DOIs
StatePublished - Jan 1 2018
Externally publishedYes

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Pathologic Dilatations
Optic Nerve
Eye Abnormalities
Klinefelter Syndrome
Intracranial Hypertension
Optic Disk
Chromosome Aberrations
Cerebrospinal Fluid
Magnetic Resonance Imaging
Brain

Keywords

  • disk anomaly
  • serous retinal detachment
  • XXXXY syndrome

ASJC Scopus subject areas

  • Ophthalmology

Cite this

MACULAR DETACHMENT ASSOCIATED with ANOMALOUS OPTIC NERVES and DURAL ECTASIA in 49, XXXXY SYNDROME. / Hajrasouliha, Amir R.; Moss, Heather E.; Maralani, Pejman J.; Kaufman, Lawrence; Grassi, Michael A.

In: Retinal Cases and Brief Reports, Vol. 12, No. 1, 01.01.2018, p. 39-41.

Research output: Contribution to journalArticle

Hajrasouliha, Amir R. ; Moss, Heather E. ; Maralani, Pejman J. ; Kaufman, Lawrence ; Grassi, Michael A. / MACULAR DETACHMENT ASSOCIATED with ANOMALOUS OPTIC NERVES and DURAL ECTASIA in 49, XXXXY SYNDROME. In: Retinal Cases and Brief Reports. 2018 ; Vol. 12, No. 1. pp. 39-41.
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