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


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).


Microphthalmos Superior cyst Autism CHARGE Coloboma 


Conflict of interest



  1. 1.
    Duke-Elder S (1963) Normal and abnormal development. Congenital deformities. In: System of ophthalmology, vol 3. CV Mosby, St Louis, p 483Google Scholar
  2. 2.
    Stoll C, Alembik Y, Dott B, Roth MP (1992) Epidemiology of congenital eye malformations in 131,760 consecutive births. Ophthalmic Paediatr Genet 13:179–186PubMedCrossRefGoogle Scholar
  3. 3.
    Waring GO III, Roth AM, Rodrigues MM (1976) Clinicopathologic correlation of microphthalmos with cyst. Am J Ophthalmol 82:714–721PubMedGoogle Scholar
  4. 4.
    Weiss A, Martinez C, Greenwald M (1985) Microphthalmos with cyst. Clinical presentations and computed tomographic findings. J Pediatr Ophthalmol Strabismus 22:6–12PubMedGoogle Scholar
  5. 5.
    Mann I, Ross JA (1929) A case of atypical coloboma associated with abnormal retinal vessels. Br J Ophthalmol 13:608–612PubMedCrossRefGoogle Scholar
  6. 6.
    Thakur S, Kashyap BP (1998) Microphthalmos with upper eye lid cyst-A case report. Indian J Ophthalmol 36:100–101Google Scholar
  7. 7.
    Yagev R, Monos T, Shoham A, Lifshitz T (2000) Microphthalmos and optic disc coloboma associated with a retrobulbar cyst. J AAPOS 4:381–382PubMedCrossRefGoogle Scholar
  8. 8.
    De Krijger RR, Mooy CM, Van Hemel JO et al (1999) CHARGE association-related ocular pathology in a newborn with partial trisomy 19q and partial monosomy 21q, from a maternal translocation (19; 21) (q13.1;q22.3). Pediatr Dev Pathol 2:577–581PubMedCrossRefGoogle Scholar
  9. 9.
    Foxman S, Cameron JD (1984) The clinical implications of bilateral microphthalmos with cyst. Am J Ophthalmol 97:632–638PubMedGoogle Scholar
  10. 10.
    Berk AT, Yaman A, Saatci AO (2003) Ocular and systemic findings associated with optic disc colobomas. J Pediatr Ophthalmol Strabismus 40:272–278PubMedGoogle Scholar

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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