Abstract
A 12-year-old boy presented with a history of optic nerve and chorioretinal coloboma of the right eye and microphthalmos of the left eye. He wore a prosthesis in the left eye (Fig. 2.1). The medical history included intellectual disability, pulmonary stenosis at birth, which was treated surgically with a pulmonary valvotomy, delayed puberty, and an undescended testicle.