Retinal hamartoma in oral-facial-digital syndrome

Only recently have intraocular findings been described in oral-facial-digit al syndrome (OFDS), including 5 cases of chorioretinal colobomas and 1 case of optic nerve coloboma. We report a case of a new ocular anomaly associat ed with this syndrome: a retinal hamartoma in a male infant with OFDS. The patient had bilateral retinal masses that were suspicious for retinoblastom a because of a family history of retinoblastoma. Physical examination and i maging studies of the retinal masses could not differentiate between retino blastoma, hamartoma, or persistent hyperplastic primary vitreous. Subsequen t pathologic study of an enucleated globe was diagnostic of a retinal hamar toma. This case further illustrates the heterogeneity of ocular anomalies i n OFDS and underscores the importance of a complete ophthalmologic evaluati on in patients with this syndrome.