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International Ophthalmology

, Volume 33, Issue 2, pp 195–198 | Cite as

Bilateral microphthalmos with unilateral superior cyst in a child with autism and CHARGE syndrome

  • Neelam Pushker
  • Sana TinwalaEmail author
  • Saurbhi Khurana
  • S. Sen
Case Report

Abstract

A case of autism with CHARGE syndrome with microphthalmos and a superior colobomatous cyst arising from the optic disc is reported. A 7-year-old boy presented with a gradually increasing mass, involving the superior orbit and upper eyelid of right eye of 3 years’ duration. Clinical examination revealed bilateral microphthalmos with typical iris coloboma, posterior synechiae, and cataractous lens. Imaging revealed bilateral optic disc colobomas with a superior cyst in the right orbit. Intraoperatively, a single cystic lesion was seen in the superior orbit arising from the optic disc region. Histopathology was suggestive of a colobomatous cyst, positive for glial tissue [glial fibrillary acidic protein (GFAP) positive] and neuroretinal elements (synaptophysin positive) on immunohistochemistry. Genetic analysis revealed a normal karyotype (46, XY).

Keywords

Microphthalmos Superior cyst Autism CHARGE Coloboma 

Notes

Conflict of interest

None.

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Copyright information

© Springer Science+Business Media Dordrecht 2012

Authors and Affiliations

  • Neelam Pushker
    • 1
  • Sana Tinwala
    • 1
    Email author
  • Saurbhi Khurana
    • 1
  • S. Sen
    • 2
  1. 1.Oculoplasty, Orbit & Oncology Services, Dr. Rajendra Prasad Centre for Ophthalmic SciencesAll India Institute of Medical SciencesNew DelhiIndia
  2. 2.Ocular Pathology Services, Dr. Rajendra Prasad Centre for Ophthalmic SciencesAll India Institute of Medical SciencesNew DelhiIndia

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