Ophthalmic manifestations of tetrasomy 18p

W. Abraham White, Martha P. Schatz, Courtney Sebold, Daniel E. Hale, Jannine Cody

Research output: Contribution to journalArticle

1 Citation (Scopus)

Abstract

Purpose: To characterize ophthalmic findings in patients with tetrasomy 18p, a rare chromosomal anomaly that has been previously associated with strabismus. Methods: All subjects underwent a complete eye examination to screen for ocular pathology. Results: A total of 25 subjects (13 female) were examined after they were diagnosed with tetrasomy 18p. The average age of subjects was 8.2 years (range, 13 months to 22 years). Of the 25 subjects, 18 (72% of examined subjects, 42% of the cohort) showed evidence of strabismus; 16 had esotropia (8 uncategorized, 5 infantile, and 3 accommodative), 1 had esophoria, and 1 was diagnosed with intermittent exotropia. Conclusions: The coincidence of esotropia with tetrasomy 18p indicates the need to routinely screen these patients for strabismus at the time of diagnosis.

Original languageEnglish (US)
Pages (from-to)268-271
Number of pages4
JournalJournal of AAPOS
Volume15
Issue number3
DOIs
StatePublished - Jun 2011

Fingerprint

Eye Manifestations
Esotropia
Strabismus
Exotropia
Pathology
Tetrasomy 18p Chromosome 18

ASJC Scopus subject areas

  • Ophthalmology
  • Pediatrics, Perinatology, and Child Health

Cite this

White, W. A., Schatz, M. P., Sebold, C., Hale, D. E., & Cody, J. (2011). Ophthalmic manifestations of tetrasomy 18p. Journal of AAPOS, 15(3), 268-271. https://doi.org/10.1016/j.jaapos.2011.02.011

Ophthalmic manifestations of tetrasomy 18p. / White, W. Abraham; Schatz, Martha P.; Sebold, Courtney; Hale, Daniel E.; Cody, Jannine.

In: Journal of AAPOS, Vol. 15, No. 3, 06.2011, p. 268-271.

Research output: Contribution to journalArticle

White, WA, Schatz, MP, Sebold, C, Hale, DE & Cody, J 2011, 'Ophthalmic manifestations of tetrasomy 18p', Journal of AAPOS, vol. 15, no. 3, pp. 268-271. https://doi.org/10.1016/j.jaapos.2011.02.011
White WA, Schatz MP, Sebold C, Hale DE, Cody J. Ophthalmic manifestations of tetrasomy 18p. Journal of AAPOS. 2011 Jun;15(3):268-271. https://doi.org/10.1016/j.jaapos.2011.02.011
White, W. Abraham ; Schatz, Martha P. ; Sebold, Courtney ; Hale, Daniel E. ; Cody, Jannine. / Ophthalmic manifestations of tetrasomy 18p. In: Journal of AAPOS. 2011 ; Vol. 15, No. 3. pp. 268-271.
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