title: Ocular findings in Jacobsen syndrome.
abstract: OBJECTIVE
  To discuss the ophthalmic findings and their clinical significance in 10 new cases of Jacobsen syndrome (mental retardation, craniofacial anomalies, congenital heart defects, and blood dyscrasias) and to review the ophthalmic findings in all previously reported cases in the literature.
  
  
  METHODS
  Ten new cases of Jacobsen syndrome were collected and studied prospectively for detection of abnormal ophthalmologic examination findings. A total of 63 previously reported cases were identified from Medline and analyzed for ophthalmologic abnormalities.
  
  
  RESULTS
  The most common ophthalmologic findings in the new cases of Jacobsen syndrome included strabismus (90.0%), refractive error (90.0%), and ptosis (70.0%). Facial dysmorphism was also common and included hypertelorism, epicanthal folds, and down-slanting palpebral fissures. Uncommon ophthalmic findings included 5 patients with retinal vascular tortuosity, 1 with glaucoma, and 3 with amblyopia. In 63 cases reviewed, 36 reported ophthalmologic abnormalities. The most common findings included facial anomalies and ptosis. Only 5 of the 63 patients had evidence of strabismus, and none were reported to have retinal vascular tortuosity.
  
  
  CONCLUSIONS
  To prevent unnecessary vision loss in children with Jacobsen syndrome, proper screening for amblyogenic factors is imperative. We recommend a baseline complete ophthalmologic examination with subsequent follow-up examinations depending on the particular findings noted during the initial screening visit.
authors.affiliation: Department of Ophthalmology, University of California-Davis Medical Center, Sacramento, CA, USA.
authors.forename: William B
authors.initials: WB
authors.lastname: Lee
authors.forename: Henry S
authors.initials: HS
authors.lastname: O'Halloran
authors.forename: Paul D
authors.initials: PD
authors.lastname: Grossfeld
authors.forename: Colin
authors.initials: C
authors.lastname: Scher
authors.forename: Yvette M
authors.initials: YM
authors.lastname: Jockin
authors.forename: Christopher
authors.initials: C
authors.lastname: Jones
mesh_terms: D000328:Adult; D002648:Child; D002675:Child, Preschool; D019465:Craniofacial Abnormalities / Q000150:complications*; D005128:Eye Diseases / Q000150:complications*; D005260:Female; D006330:Heart Defects, Congenital / Q000150:complications*; D006402:Hematologic Diseases / Q000150:complications*; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000150:complications*; D008297:Male; D013577:Syndrome