title: Ophthalmic manifestations of tetrasomy 18p.
abstract: OBJECTIVE
  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.
authors.affiliation: Department of Ophthalmology, University of Texas Health Science Center, San Antonio, Texas 78229-3900, USA. whitew3@uthscsa.edu
authors.forename: W Abraham
authors.initials: WA
authors.lastname: White
authors.forename: Martha P
authors.initials: MP
authors.lastname: Schatz
authors.forename: Courtney
authors.initials: C
authors.lastname: Sebold
authors.forename: Daniel E
authors.initials: DE
authors.lastname: Hale
authors.forename: Jannine
authors.initials: J
authors.lastname: Cody
mesh_terms: D000293:Adolescent; D000782:Aneuploidy; D002648:Child; D002675:Child, Preschool; D002887:Chromosomes, Human, Pair 18 / Q000235:genetics; D055028:Comparative Genomic Hybridization; D004948:Esotropia / Q000235:genetics*; D005099:Exotropia / Q000235:genetics*; D005260:Female; D006801:Humans; D007223:Infant; D007621:Karyotyping; D008279:Magnetic Resonance Imaging; D008297:Male; D046228:Microarray Analysis; D055815:Young Adult