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Ocular findings in Loeys-Dietz syndrome
  1. Catharina Busch1,2,
  2. Robert Voitl3,
  3. Barbara Goergen1,
  4. Tomasz Zemojtel4,
  5. Petra Gehle3,
  6. Daniel J Salchow1
  1. 1 Department of Ophthalmology, Charité-University Medicine Berlin, Berlin, Germany
  2. 2 Berlin Institute of Health, Berlin, Germany
  3. 3 Department of Medicine, Division of Cardiology, Charité-University Medicine Berlin, Berlin, Germany
  4. 4 Genomics Core Facility, Berlin Institute of Health, Berlin, Germany
  1. Correspondence to Professor Daniel J Salchow, Department of Ophthalmology, Charité University Medicine Berlin, 13353 Berlin, Germany; daniel.salchow{at}


Background Loeys-Dietz syndrome (LDS), an autosomal-dominant connective tissue disorder, is characterised by systemic manifestations including arterial aneurysm and craniofacial dysmorphologies. Although ocular involvement in LDS has been reported, detailed information on those manifestations is lacking.

Methods Retrospective chart review of patients with diagnosed LDS and comparison with age-matched control patients.

Results Mean age was 37.8±14.6 years (patients with LDS) and 38.4±13.5 years (controls). Patients with LDS less frequently had iris transillumination, cataract and glaucoma compared with controls. Scleral and retinal vascular abnormalities were not found in any of the LDS eyes. Ectopia lentis was found in one patient with LDS. The eyes of patients with LDS tended to be more myopic (spherical equivalent, −2.47±2.70 dioptres (dpt) vs −1.30±2.96dpt (controls); P=0.08) and longer (24.6±1.7mm vs 24.1±1.5mm (controls); P=0.10). Central corneal thickness was significantly reduced in LDS eyes (521±48µm vs 542±37µm (controls); P=0.02). Corneal curvature (43.06±1.90dpt (LDS) versus 43.00±1.37dpt (controls); P=0.72) and interpupillary distance (65.0±6.0mm (LDS) vs 64.3±4.8mm (controls); P=0.66) did not differ significantly between both groups. Visual acuity was similar between both groups (0.03±0.09logarithm of the minimum angle of resolution (logMAR) for LDS eyes and 0.05±0.17logMAR for control eyes, P=0.47).

Conclusions Ocular features of LDS include decreased central corneal thickness and mild myopia. Ectopia lentis may be slightly more common than in controls but appears less common than in Marfan syndrome. Hypertelorism, scleral and retinal vascular abnormalities were not features of LDS.

  • genetics
  • eye (globe)

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  • Contributors CB, PG and DJS were involved in the conception and design of the study. CB, TZ, PG and DJS were involved in the analysis and the interpretation of data. CB, RV, BG, TZ, PG and DJS were involved in the data collection, literature research and writing the first drafts of the manuscript. All authors critically revised the manuscript and gave final approval of the submitted manuscript. All authors are accountable for all aspects of the work in ensuring that questions related to the accuracy or integrity of any part of the work are appropriately investigated and resolved.

  • Competing interests None declared.

  • Patient consent Retrospective chart review of ophthalmological examination results.

  • Ethics approval Institutional Review Board of Charité-Universitätsmedizin Berlin, Germany.

  • Provenance and peer review Not commissioned; externally peer reviewed.

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