[Ocular manifestations in Ehlers-Danlos Syndromes: Clinical study of 21 patients]

J Fr Ophtalmol. 2019 Sep;42(7):722-729. doi: 10.1016/j.jfo.2019.01.005. Epub 2019 May 25.
[Article in French]


Introduction: The goal of this study was to describe and analyze the ophthalmological manifestations found in 21 patients followed for Ehlers-Danlos Syndrome in our department.

Methods: This retrospective study analyzed 21 consecutive patients (17 women and 4 men) with Ehlers-Danlos syndrome seen in the Necker hospital, Paris, between April 2016 and November 2017. The mean age was 25.95 years (12-47). A complete evaluation was performed searching for symptoms, orthoptic evaluation and complete ophthalmologic examination with slit lamp examination of the anterior segment, pachymetry and fundus examination with fundus photography and OCT.

Results: Nineteen patients presented ophthalmological signs (90.5%). The most frequent ophthalmological signs were: ocular motility disorders in 15 patients (71.4%), with convergence insufficiency in 13 of them, blue sclera in 8 patients (38%) and dry eye syndrome in 7 patients (33%, with 2 patients with reduced Break-Up Time<10seconds and 5 with very reduced Break-Up Time<5seconds). Mean pachymetry was 539.25μm (365-612). One patient presented with bilateral keratoglobus (4.8%). High myopia was present in 2 patients (9.5%) and associated with retinal tears in one patient (4.8%). No patients presented with angioid streaks.

Discussion: In this study, the main ophthalmological sign was convergence insufficiency present in more than 60% of the patients. This highlights the importance of an orthoptic examination in patients with Ehlers-Danlos syndrome. Dry eye syndrome with tear film instability was frequent, even though the patients were young. Blue sclera was seen in 38% of the patients. We reported two patients with high myopia and one patient with keratoglobus in our cohort. No patients presented with angioid streaks, and mean pachymetry was normal in our series.

Conclusion: An ophthalmological and orthoptic evaluation should be performed in all patients with Ehlers-Danlos syndrome to detect and treat ocular manifestations. If Ehlers-Danlos syndrome is suspected, ophthalmological examination can also provide support for the diagnosis.

Keywords: Blue sclera; Convergence insufficiency; Dry eye syndrome; Ehlers–Danlos syndrome; Insuffisance de convergence; Pachymetry; Pachymétrie; Syndrome sec; Syndromes d’Ehlers–Danlos; Taches ardoisées conjonctivales.

MeSH terms

  • Adolescent
  • Adult
  • Child
  • Cohort Studies
  • Ehlers-Danlos Syndrome / complications
  • Ehlers-Danlos Syndrome / epidemiology*
  • Eye Diseases / epidemiology*
  • Eye Diseases / etiology
  • Female
  • Humans
  • Male
  • Middle Aged
  • Paris / epidemiology
  • Retrospective Studies
  • Young Adult