Abstract
We describe a case of a full-term (gestational age 37 weeks) female newborn with "congenital cavitary optic disc anomaly." The optic nerves were initially suspicious for congenital glaucoma at birth; however, serial intraocular pressures were within normal range and the corneas were clear bilaterally. She also exhibited hypertelorism and exotropia. She was diagnosed with Wolf-Hirschhorn Syndrome through genetic testing with deletion of 4p15.3, a rare syndrome caused by a partial deletion on chromosome 4p with characteristic facies, developmental delay, and other anomalies. Other ocular manifestations that have been described in this disorder, but were absent in our case, include orbital and eyelid malformations, nystagmus, microphthalmos, microcornea, peripheral corneal scleralization, Peter's anomaly, foveal hypoplasia, glaucoma, and colobomas of the eyelid, choroid, retina, or iris.
Keywords
Wolf-Hirschhorn Syndrome, Optic nerve, Congenital glaucoma, Genetics, Strabismus