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Follow-up report of fundus findings of tuberous sclerosis-associated retinal astrocytoma of two siblings.

Anand Naik BukkeDheepak M SundarRohan ChawlaChandradevi Shanmugam
Published in: BMJ case reports (2024)
A late adolescent with tuberous sclerosis (TS) presented with reduced vision in one eye to our tertiary care university hospital 4 years ago. Fundus examination revealed multiple retinal astrocytic hamartomas (RAHs) in both eyes. His younger sibling, who also had TS, was found to have RAH on retinal screening. The swept-source optical coherence tomography (SS-OCT) findings were typical of RAH. We further noted that some of the RAH lesions showed segmental whitening of the outer walls of the arterioles, which traversed through them. The segmental whitening may suggest the enveloping of normal retinal vessels by the tumour. En-face and B-scan SS-OCT angiography of patients with TS showed vascularity within the tumour. The vessels within the tumour appeared to be in continuity with the retinal vasculature. Both siblings were reviewed annually. At the end of 4 years, there was no change in visual acuity, tumour size, number, vascularity and behaviour.
Keyphrases
  • optical coherence tomography
  • diabetic retinopathy
  • optic nerve
  • tertiary care
  • young adults
  • computed tomography
  • intellectual disability
  • autism spectrum disorder
  • single cell
  • contrast enhanced