Unilateral retinoblastoma in an eye with Peters anomaly

Abstract

Retinoblastoma and Peters anomaly are presumably unrelated ocular conditions, although other congenital ocular anomalies have been described in association with retinoblastoma. We report the case of a neonate who presented with unilateral retinoblastoma and Peters anomaly. Retinoblastoma arises from a deregulation of cellular events secondary to inactivation of both RB1 gene alleles, whereas Peters anomaly has been linked to eye-development genes and chromosomal anomalies. A second locus for retinoblastoma, RBL2, which encodes the p130 protein, has been shown to contribute to retinoblastoma oncogenesis. Coincidentally, p130 also plays a role in corneal cell differentiation. Although the association of retinoblastoma and Peters anomaly in this patient may be coincidental, it raises the question of whether the RBL2 mutation contributed to both conditions.