The ocular manifestations of Jacobsen syndrome: a report of four cases and a review of the literature.
OBJECTIVE
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.
University of Toronto, 555 University Avenue, Toronto, Ontario M5G 1X8, Canada.
Garfield L
GL
Miller
Sohel
S
Somani
Malgorzata J M
MJ
Nowaczyk
Annette
A
Feigenbaum
Ronald G
RG
Davidson
Teresa
T
Costa
Alex V
AV
Levin
D000070996:ATP Binding Cassette Transporter, Subfamily G; D018528:ATP-Binding Cassette Transporters / Q000235:genetics; D002880:Chromosomes, Human, Pair 11 / Q000235:genetics*; D003103:Coloboma / Q000150:complications / Q000235:genetics; D019465:Craniofacial Abnormalities / Q000150:complications* / Q000235:genetics; D005128:Eye Diseases / Q000150:complications* / Q000235:genetics; D005260:Female; D017353:Gene Deletion; D005838:Genotype; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D008565:Membrane Proteins / Q000235:genetics; D019006:Neural Cell Adhesion Molecules / Q000235:genetics; D010641:Phenotype; D015792:Retinal Dysplasia / Q000150:complications / Q000235:genetics; D013577:Syndrome; D000099274:Frizzled-Related Proteins
D000070996:ATP Binding Cassette Transporter, Subfamily G; D018528:ATP-Binding Cassette Transporters; D008565:Membrane Proteins; D019006:Neural Cell Adhesion Molecules; C439766:ABCG4 protein, human; C490110:MFRP protein, human; D000099274:Frizzled-Related Proteins