Superior Lens Coloboma with Superior Rectus Palsy and Congenital Ptosis

Abstract

A lens coloboma is characterized by the lens tissue's notching at the equator. It is usually inferior-nasal else it is called an atypical coloboma. We report a young male who presented with a superior lens coloboma, an elevation deficit and moderate ptosis, left eye. As superior rectus and levator muscles are derived from the neural crest cell we propose, genetically, there may be an association between the lens coloboma and the superior rectus/levator muscle underaction via an anomalous homeobox gene function.

Keywords

• lens coloboma
• ptosis
• palsy