Table 2.

Revised diagnostic criteria for OCCS

Eye	Major criteria • Congenital orbital cyst or microphthalmia with cyst (MOC) Minor criteria • Isolated microphthalmia/anophthalmia • Any other colobomatous defect, ocular or eyelid
Skin	Major criteria • Crescent-shaped skin defect above or behind the ear • Pedunculated skin appendage, finger-like and moving, or proven striated muscle hamartoma (SMH) • Pedunculated skin appendage (possible SMH) plus one of minor criteria 2-4 below Minor criteria • Pedunculated skin appendage, possible SMH • Focal hypo- or aplastic lesions • Small punched-out lesions • Three or more small nodular tags
Brain	Major criteria • Novel mid-hindbrain malformation consisting of giant, dysplastic tectum rotated upwards, and absent or severely malformed vermis Often associated with nearly horizontal orientation of aqueduct Minor criteria • Patchy polymicrogyria, most often frontal predominant • Subcortical or periventricular nodular heterotopia • Agenesis of corpus callosum, complete or partial, and often associated with interhemispheric cysts • Enlarged lateral ventricles, often asymmetric, or hydrocephalus • Porencephalic cysts unspecified • Cerebellar vermis and hemisphere hypoplasia • Posterior fossa fluid collection sometimes with enlarged posterior fossa
Application to diagnosis of OCCS	Definite OCCS • 3 systems involved with major criterium in at least one system, or • 2 systems involved with major criterium in both Probable OCCS • 3 systems involved with no major criterium • 2 systems involved with major criterium in only one system