Ocular findings in two siblings with Joubert syndrome

Abstract

We describe two brothers with Joubert syndrome (JS). JS diagnosis was made on the basis of neurological findings and the presence of the characteristic "molar tooth sign", which was subsequently confirmed by magnetic resonance imaging. Both brothers demonstrated ptosis, hypotropia, exotropia, and horizontal pendular nystagmus. The younger brother had mild chorioretinal discoloration at the peripapillary region in both eyes, and a small coloboma at the inferior region of his right optic disc. The elder brother had coloboma in his right eye and a colobomatous optic disc in his left eye. Optical coherence tomography showed that the foveal architecture was preserved in both patients. We discuss the ocular findings, including those from optical coherence tomography, in JS, which has recently been recognized as ciliopathy. © 2014 Makino and Tampo.