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Ocular findings in Jacobsen syndrome
William B Lee1, Henry S O'Halloran, Paul D Grossfeld
1Department of Ophthalmology, University of California-Davis Medical Center, Sacramento, CA, USA.
Summary
Jacobsen syndrome often presents with ophthalmic issues like strabismus and ptosis. Early eye screenings are crucial for children with Jacobsen syndrome to prevent vision loss.
Area of Science:
- Ophthalmology
- Genetics
- Pediatrics
Background:
- Jacobsen syndrome is a rare genetic disorder characterized by intellectual disability, craniofacial anomalies, congenital heart defects, and blood dyscrasias.
- Ophthalmic manifestations are frequently observed in individuals with Jacobsen syndrome, necessitating thorough evaluation.
Purpose of the Study:
- To detail the ophthalmic findings and their clinical importance in 10 new Jacobsen syndrome cases.
- To comprehensively review ophthalmic abnormalities reported in all previously documented Jacobsen syndrome cases.
Main Methods:
- Prospective ophthalmologic examination of 10 new Jacobsen syndrome cases.
- Systematic literature review and analysis of ophthalmologic findings in 63 previously reported Jacobsen syndrome cases.
Main Results:
- In new cases, common findings included strabismus (90%), refractive errors (90%), and ptosis (70%). Uncommon findings included retinal vascular tortuosity and glaucoma.
- Review of prior cases revealed facial anomalies and ptosis as most frequent; strabismus and retinal vascular tortuosity were less commonly reported.
Conclusions:
- Amblyogenic factors require diligent screening in children with Jacobsen syndrome to avert vision impairment.
- A baseline comprehensive ophthalmologic examination followed by tailored follow-up is recommended for managing ophthalmic conditions in Jacobsen syndrome.