Table 2 Differential diagnosis of elevated intraocular pressure and seizures in children

CASK mutation

Anterior segement dysgenesis, megalocornea

Dystonia, psychomotor retardation, severe, intellectual disability, scoliosis, mild, dysmorphism, progressive microcephaly

Klippel-Trenaunay-Weber syndrome

Increased episcleral venous pressure

Port-wine stains, venous and lymphatic malformations, soft tissue hypertrophy of affected limbs

Neurofibromatosis

Anterior segment dysgenesis

Optic nerve glioma, Lisch nodules, café au lait spots, neurofibromas, freckling of intertriginous areas

Ring 14 syndrome

Unknown

Macular white spots, strabismus, short, stature, microcephaly, scoliosis

Sturge Weber syndrome

Increased episcleral venous pressure

Port-wine stains, ipsilateral leptomeningeal, vascular malformations

Tuberous sclerosis

Anterior segment neovascularization, retinal detachment

Retinal astrocytic hamartomas, ash-leaf spots, adenoma sebaceum, cardiac rhabdomyoma

Wyburn-Mason syndrome

Intraocular hemorrhage

Retinal racemose hemangiomas, arteriovascular, malformation with dilated and tortuous shunt vessels