Ophthalmic manifestations of tetrasomy 18p

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

Producción científica: Articlerevisión exhaustiva

2 Citas (Scopus)


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.

Idioma originalEnglish (US)
Páginas (desde-hasta)268-271
Número de páginas4
PublicaciónJournal of AAPOS
EstadoPublished - jun 2011

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Ophthalmology


Profundice en los temas de investigación de 'Ophthalmic manifestations of tetrasomy 18p'. En conjunto forman una huella única.

Citar esto