title: Bilateral microphthalmos with unilateral superior cyst in a child with autism and CHARGE syndrome.
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).
authors.affiliation: Oculoplasty, Orbit & Oncology Services, Dr. Rajendra Prasad Centre for Ophthalmic Sciences, All India Institute of Medical Sciences, New Delhi, India.
authors.forename: Neelam
authors.initials: N
authors.lastname: Pushker
authors.forename: Sana
authors.initials: S
authors.lastname: Tinwala
authors.forename: Saurbhi
authors.initials: S
authors.lastname: Khurana
authors.forename: S
authors.initials: S
authors.lastname: Sen
mesh_terms: D001321:Autistic Disorder / Q000150:complications*; D001706:Biopsy; D058747:CHARGE Syndrome / Q000150:complications*; D002648:Child; D003103:Coloboma / Q000150:complications* / Q000000981:diagnostic imaging / Q000473:pathology; D003560:Cysts / Q000150:complications* / Q000000981:diagnostic imaging / Q000473:pathology; D006801:Humans; D008297:Male; D008850:Microphthalmos / Q000150:complications* / Q000000981:diagnostic imaging / Q000473:pathology; D009900:Optic Nerve / Q000002:abnormalities / Q000000981:diagnostic imaging / Q000473:pathology; D014057:Tomography, X-Ray Computed