Primary ocular presentation of tuberous sclerosis - A case report

Indian J Ophthalmol. 2019 Mar;67(3):433-435. doi: 10.4103/ijo.IJO_925_18.

Abstract

A 25-year-old man presented with decreased vision in the left eye with hypopigmented elevated subretinal lesion over the optic disk with abnormal vasculature, subretinal and retinal hemorrhages, and fluid in the macula. An area of high spike over the disk with corresponding orbital shadowing was seen on B scan ultrasonography. Fundus fluorescein angiography revealed abnormal vasculature. Systemic examination revealed facial angiofibroma, ashleaf spot, and dental pits with multiple cortical tubers on CT brain. Intravitreal injection of bevacizumab led to visual and tomographic improvement. Abnormal retinal vascularization and exudation in young individuals may be a presenting feature in tuberous sclerosis.

Keywords: Aggressive retinal hamartoma; bevacizumab; fundus flurescein angiography; tuberous sclerosis.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Angiogenesis Inhibitors / administration & dosage
  • Bevacizumab / administration & dosage
  • Cerebral Cortex / diagnostic imaging
  • Fluorescein Angiography
  • Fundus Oculi
  • Hamartoma / diagnosis*
  • Hamartoma / drug therapy
  • Hamartoma / etiology
  • Humans
  • Intravitreal Injections
  • Male
  • Optic Disk
  • Retinal Diseases / diagnosis*
  • Retinal Diseases / drug therapy
  • Retinal Diseases / etiology
  • Tomography, Optical Coherence
  • Tomography, X-Ray Computed
  • Tuberous Sclerosis / complications
  • Tuberous Sclerosis / diagnosis*
  • Tuberous Sclerosis / drug therapy
  • Visual Acuity

Substances

  • Angiogenesis Inhibitors
  • Bevacizumab