Tuberous Sclerosis Complex

  • Autosomal dominantly inherited disorder with defect in gene coding for proteins that suppress tumor growth
  • Systemic manifestations: tumors in brain, kidneys, heart, lungs
  • Most common ophthalmic manifestation: retinal astrocytic hamartoma
  • Subependymal giant cell astrocytoma (SEGA) causes hydrocephalus visible in eyes as papilledema
  • Refer patients suspected of having tuberous sclerosis complex for ophthalmoscopy because...
  • Retinal astrocytic hamartomas among criteria for diagnosis, and...
  • Papilledema indicates hydrocephalus caused by SEGA, and...
  • Chronic papilledema may cause blindness unless high intracranial pressure relieved
  • Diagnosis based on fulfilling:
    • One major criterion-two or more retinal hamartomas, SEGA, facial angiofibroma, ungual fibroma, or...
    • Two minor criteria-single retinal hamartoma, infantile spasms, hypopigmented skin macules, shagreen patch, bilateral renal angiomyolipomata or cysts, cardiac rhabdomyoma, first-degree relative with this condition
  • Treatment directed at clinical manifestations
  • Patients with hydrocephalus may undergo surgical excision of SEGA and/or ventriculoperitoneal shunting
  • Delayed diagnosis of hydrocephalus may worsen mental status, control of seizures, visual outcome