This 16 year old male has had very poor vision his entire life. At a few months of age, his parents noticed that he had roving eye movements and would not track their faces when they talked to him.

The clinical features supporting the diagnosis of Leber congenital amaurosis in this patient include: light perception vision since shortly after birth; nystagmus; a relatively normal fundus appearance with pink optic disks; hyperopia; and, normally sighted parents.