Bilateral optic disk swelling in the 4q34 deletion syndrome

Abstract

Terminal deletion of chromosome 4q is a genetic abnormality associated predominantly with cardiac abnormalities, abnormal facial features, and developmental delay. A specific clinical clue to this infrequently diagnosed disorder is hypoplasia of the terminal phalanx of the fifth finger with an abnormal nail, occasionally extending onto the volar surface. Ocular manifestations of the disorder are uncommon, but anterior segment dysgenesis and glaucoma have been described with proximal deletions of chromosome 4 with phenotypes resembling Rieger's anomaly. We present a case of 4q deletion syndrome, presenting with asymptomatic bilateral disk swelling.