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

Abstract

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.

• Authors: Garfield L Miller, Sohel Somani, Malgorzata J M Nowaczyk, Annette Feigenbaum, Ronald G Davidson, Teresa Costa, Alex V Levin
• Journal: Ophthalmic genetics (Ophthalmic Genet) Vol. 27 Issue 1 Pg. 1-7 (Mar 2006) ISSN: 1381-6810 [Print] England
• PMID: 16543195 (Publication Type: Case Reports, Journal Article)

Chemical References

• ABCG4 protein, human
• ATP Binding Cassette Transporter, Subfamily G
• ATP-Binding Cassette Transporters
• MFRP protein, human
• Membrane Proteins
• Neural Cell Adhesion Molecules

Topics

• ATP Binding Cassette Transporter, Subfamily G
• ATP-Binding Cassette Transporters (genetics)
• Chromosomes, Human, Pair 11 (genetics)
• Coloboma (complications, genetics)
• Craniofacial Abnormalities (complications, genetics)
• Eye Diseases (complications, genetics)
• Female
• Gene Deletion
• Genotype
• Humans
• Infant, Newborn
• Male
• Membrane Proteins (genetics)
• Neural Cell Adhesion Molecules (genetics)
• Phenotype
• Retinal Dysplasia (complications, genetics)
• Syndrome