Neuro-ophthalmic manifestations of Ehlers-Danlos syndrome

Sruti S. Rachapudi, Noor A. Laylani, Pamela A. Davila-Siliezar, Andrew G. Lee

Research output: Contribution to journalReview articlepeer-review

Abstract

Purpose of reviewTo review the neuro-ophthalmic manifestations of Ehlers-Danlos syndrome (EDS).Recent findingsEhlers-Danlos syndrome (EDS) is a rare genetic disorder with an estimated prevalence of 1 in 5000 individuals, but its true prevalence may be underestimated because of variable clinical presentations and limited awareness among healthcare professionals. The neuro-ophthalmic features of EDS may be difficult to recognize in context but new molecular genetic testing is now available for identification of specific subtypes of EDS.SummaryOphthalmic manifestations of EDS include loss of vision and double vision (strabismus), high myopia, retinal detachment, and blue sclera. The vascular subtype of EDS can present as a carotid-cavernous fistula, intracranial aneurysm, or arterial dissection.

Original languageEnglish (US)
Pages (from-to)476-480
Number of pages5
JournalCurrent Opinion in Ophthalmology
Volume34
Issue number6
DOIs
StatePublished - Nov 1 2023
Externally publishedYes

Keywords

  • Ehlers-Danos syndromes
  • hypermobility
  • ophthalmic manifestations

ASJC Scopus subject areas

  • Ophthalmology

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