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

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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).

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Authors and Affiliations

  1. Oculoplasty, Orbit & Oncology Services, Dr. Rajendra Prasad Centre for Ophthalmic Sciences, All India Institute of Medical Sciences, New Delhi, India

    Neelam Pushker, Sana Tinwala & Saurbhi Khurana

  2. Ocular Pathology Services, Dr. Rajendra Prasad Centre for Ophthalmic Sciences, All India Institute of Medical Sciences, New Delhi, India

    S. Sen

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  1. Neelam Pushker
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  2. Sana Tinwala
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  3. Saurbhi Khurana
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  4. S. Sen
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Correspondence to Sana Tinwala.

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Pushker, N., Tinwala, S., Khurana, S. et al. Bilateral microphthalmos with unilateral superior cyst in a child with autism and CHARGE syndrome. Int Ophthalmol 33, 195–198 (2013). https://doi.org/10.1007/s10792-012-9653-y

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  • DOI: https://doi.org/10.1007/s10792-012-9653-y

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