Ophthalmic manifestations of Wolf-Hirschhorn syndrome.
OBJECTIVE
Wolf-Hirschhorn syndrome is caused by partial deletion of the short arm of chromosome 4 (4p-). Common features include developmental delay, microcephaly, seizures, craniofacial anomalies, mental retardation, and cardiac defects. This article further describes the ocular manifestations of this rare disorder.


METHODS
Charts of patients with 4p- from the University of Arkansas (n = 3) and the University of Minnesota (n = 7) were reviewed. Diagnosis was made by a geneticist and was confirmed by karyotype. Cytogenetic reports were available for review in eight patients.


RESULTS
Ten patients (six females and four males) aged 4 months to 11 years were included. Ophthalmic findings included exodeviation (9/10), nasolacrimal obstruction (6/10), shallow orbits (3/10), epicanthal folds (3/10), foveal hypoplasia (3/10), upper lid coloboma (2/10), optic disk anomalies (2/10), downslanting palpebral fissures (2/10), microcornea (2/10), hypertelorism (1/10), nystagmus (1/10), and chorioretinal coloboma (1/10). Eight patients with 4p- had break points ranging from band 4p14 to 4p16.3.


CONCLUSIONS
This study expands on previous reports of the ophthalmic phenotype in 4p- and includes the additional findings of foveal hypoplasia, nystagmus, shallow orbits, epicanthal folds, and upper lid colobomas. Ophthalmic findings in 4p- are variable, likely related to the size of the deletion.
Department of Ophthalmology, University of Minnesota, Minneapolis, MN, USA.
Wen Y
WY
Wu-Chen
Stephen P
SP
Christiansen
Susan A
SA
Berry
W Keith
WK
Engel
Katherine J
KJ
Fray
C Gail
CG
Summers
D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D002872:Chromosome Deletion; D002894:Chromosomes, Human, Pair 4 / Q000235:genetics*; D019465:Craniofacial Abnormalities / Q000235:genetics*; D005124:Eye Abnormalities / Q000175:diagnosis / Q000235:genetics*; D005260:Female; D006330:Heart Defects, Congenital / Q000235:genetics; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D008831:Microcephaly / Q000235:genetics*; D013577:Syndrome