Ocular findings in fragile X syndrome

R. A. King, Randi J Hagerman, M. Houghton

Research output: Contribution to journalArticlepeer-review

12 Scopus citations


Little has been written about the ophthalmic findings in fragile X syndrome, the second most common chromosomal cause of mental retardation after Down's syndrome. This paper reviews the ophthalmic findings of 55 patients with fragile X syndrome. Strabismus was the most common finding occurring in over 40%. Other findings included amblyopia, refractive errors, nystagmus, ptosis, and convergence insufficiency. Genetic testing, which is becoming increasingly available, and other systemic aspects of the disease are discussed.

Original languageEnglish (US)
Pages (from-to)223-229
Number of pages7
JournalDevelopmental Brain Dysfunction
Issue number4-6
StatePublished - 1995
Externally publishedYes


  • amblyoplia
  • fragile X syndrome
  • nystagmus
  • ocular findings
  • ophthalmology
  • strabismus
  • treatment

ASJC Scopus subject areas

  • Clinical Neurology
  • Neuroscience(all)


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