The ocular manifestations of Jacobsen syndrome: a report of four cases and a review of the literature.

PURPOSE: We report ophthalmic manifestations in four Jacobsen syndrome cases, review the literature, and suggest phenotype-genotype correlations.

METHODS

Chart review of Ocular Genetics Program patients at The Hospital for Sick Children, Toronto, Canada.

RESULTS

Four del11qter cases are presented. Hypertelorism/telecanthus, abnormally slanted palpebral fissures, abnormal retinal findings, nasolacrimal duct obstruction, anomalous extraocular muscles, amblyopia, and microcornea were found.

CONCLUSIONS

We report typical findings and novel ocular presentations. Visual prognosis is generally good. Retinal dysplasia and coloboma seem associated with del11q23. ABCG4, NCAM, and Mfrp are candidate genes in this region that theoretically may be disrupted.