Ocular findings in Jacobsen syndrome

Lee, William B; O'Halloran, Henry S; Grossfeld, Paul D; Scher, Colin; Jockin, Yvette M; Jones, Christopher

doi:10.1016/j.jaapos.2003.09.002

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Volume 8, Issue 2 , Pages 141-145, April 2004

Ocular findings in Jacobsen syndrome

William B Lee, MD
- Department of Ophthalmology, University of California–Davis Medical Center, Sacramento, CA USA
Henry S O'Halloran, MD, FRCSI
- San Diego Children's Hospital, San Diego, CA USA
- Reprint requests: Henry S. O'Halloran, MD, FRCSI, 3030 Children's Way, Children's Hospital San Diego, CA 92123, USA.
Paul D Grossfeld, MD
- University of California San Diego–Salk Program in Molecular Medicine, School of Medicine, University of California San Diego, La Jolla, CA, USA
Colin Scher, MD
- San Diego Children's Hospital, San Diego, CA USA
Yvette M Jockin, MD
- San Diego Children's Hospital, San Diego, CA USA
Christopher Jones, PhD
- Department of Experimental Hematology, St. Bartholomew's and Royal London Medical and Dental School, London, England UK

Received 13 August 2002; received in revised form 2 September 2003

Abstract

Purpose

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.