Funnel-shaped, excavated optic disc surrounded by
chorioretinal pigmentary anomalies; it is generally unilateral and isolated
but has been observed in association with midline facial defects (cleft lip
or palate, hypertelorism, basal meningomyelocele, agenesis of corpus
callosum), renal anomalies, the CHARGE association, and isolated cardiac
defects (i.e., atrial septal defect [ASD], ventricular septal defect [VSD], and patent ductus arteriosus [PDA]). In a few cases, basal encephalocele was also
associated with the defect.