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Synapse
May 2, 2026

Tuberous sclerosis and primary antiphospholipid syndrome.

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Authors

PLPamela Danielle T LanuzaKMKevin Michael C MoalongBSBenilda Sanchez-Gan

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Overview

Case report demonstrates acute vision loss in an adolescent with Tuberous Sclerosis and Antiphospholipid Syndrome, indicating potential connections.

Key Points

  • To present a case of Tuberous Sclerosis Complex (TSC) occurring with primary antiphospholipid syndrome.
  • Case report of an adolescent female with TSC presenting with acute vision loss from ophthalmic artery thrombosis.
  • Work-up included tests for lupus anticoagulant and genetic testing for TSC1 mutation.
  • Patient received treatment with aspirin, warfarin, and anti-seizure medications.
  • Patient tested positive for lupus anticoagulant.
  • Genetic testing confirmed mutation in the TSC1 gene.
  • Evidence from experimental models suggests possible pathways linking TSC1 deficiency with thrombosis.

Cite This Study

Lanuza et al. (2026) studied this question.

synapsesocial.com/papers/69f5947e71405d493afff446https://doi.org/10.1136/bcr-2025-271107
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