Ocular manifestation in Marfan syndrome: corneal biomechanical properties relate to increased systemic score points

  • Dido Scheibenberger
  • Andreas Frings
  • Johannes Steinberg
  • Helke Schüler
  • Vasyl Druchkiv
  • Toam Katz
  • Yskert von Kodolitsch
  • Stephan Linke
Cornea
  • 42 Downloads

Abstract

Purpose

To evaluate corneal deformation to an air puff as a new noninvasive tool to document disease status in Marfan syndrome (MFS)

Methods

Prospective observational cohort study. We included patients diagnosed with MFS who had their routine cardiovascular follow-up and applied the revised Ghent nosology to define two subgroups according to a high (≥ 7) and a low (< 7 points) systemic score. Dynamic Scheimpflug-based biomechanical analyses (CorvisST® [CST; Oculus GmbH]) were performed. The main outcome measure was the displacement of the corneal apex as given by the parameters highest concavity (HC; in ms), peak distance (PD; in mm), and highest concavity deformation amplitude (DA; mm).

Results

Forty-three eyes of 43 individuals (19 female, 24 male; mean age 42.0 ± 12.0 years, range 18–67 years) diagnosed with MFS were included. Applying the Ghent criteria, 21 patients had an advanced systemic score of ≥ 7, and 22 had score points < 7. There were no differences in age or sex between both groups. In contrast, HC was faster (P = 0.004), and PD (P < 0.001) was longer in those individuals with systemic score ≥ 7; maximum DA did not result in a statistically significant difference between the groups (P = 0.250).

Conclusions

In vivo noninvasive biomechanical analyses with CST offer a new, non-invasive method to identify pathologic corneal deformation responses in adults with MFS. In the future, corneal deformation to an air puff could thus assist early identification of patients with high Ghent score as an adjunct to existing diagnostic tests.

Keywords

Marfan syndrome Corvis ST Corneal biomechanics Ghent criteria 

Notes

Compliance with ethical standards

Conflict of interest

The authors declare that they have no conflict of interest.

Ethical approval

All procedures performed in studies involving human participants were in accordance with the ethical standards of the institutional and/or national research committee and with the 1964 Helsinki declaration and its later amendments or comparable ethical standards.

Informed consent

Informed consent was obtained from all individual participants included in the study.

References

  1. 1.
    De Paepe A, Devereux RB, Dietz HC, Hennekam RC, Pyeritz RE (1996) Revised diagnostic criteria for the Marfan syndrome. Am J Med Genet 62:417–426CrossRefPubMedGoogle Scholar
  2. 2.
    Loeys BL, Dietz HC, Braverman AC et al (2010) The revised Ghent nosology for the Marfan syndrome. J Med Genet 47:476–485CrossRefPubMedGoogle Scholar
  3. 3.
    Traboulsi EI, Whittum-Hudson JA, Mir SH, Maumenee IH (2000) Microfibril abnormalities of the lens capsule in patients with Marfan syndrome and ectopia lentis. Ophthalmic Genet 21:9–15CrossRefPubMedGoogle Scholar
  4. 4.
    Mir S, Wheatley HM, Hussels IE, Whittum-Hudson JA, Traboulsi EI (1998) A comparative histologic study of the fibrillin microfibrillar system in the lens capsule of normal subjects and subjects with Marfan syndrome. Invest Ophthalmol Vis Sci 39:84–93PubMedGoogle Scholar
  5. 5.
    Beene LC, Traboulsi EI, Seven I et al (2016) Corneal deformation response and ocular geometry: a noninvasive diagnostic strategy in Marfan syndrome. Am J Ophthalmol 161:56–64CrossRefPubMedGoogle Scholar
  6. 6.
    Von Kodolitsch Y, De Backer J, Schüler H et al (2015) Perspectives on the revised Ghent criteria for the diagnosis of Marfan syndrome. Appl Clin Genet 8:137–155CrossRefGoogle Scholar
  7. 7.
    Frings A, Linke SJ, Bauer EL et al (2015) Effects of laser in situ keratomileusis (LASIK) on corneal biomechanical measurements with the Corvis ST tonometer. Clin Ophthalmol 9:305–311CrossRefPubMedPubMedCentralGoogle Scholar
  8. 8.
    Dupps WJ Jr, Wilson SE (2006) Biomechanics and wound healing in the cornea. Exp Eye Res 83:709–720CrossRefPubMedPubMedCentralGoogle Scholar
  9. 9.
    Kotecha A (2007) What biomechanical properties of the cornea are relevant for the clinician? Surv Ophthalmol 52:109–114CrossRefGoogle Scholar
  10. 10.
    Hjortdal JO (1998) On the biomechanical properties of the cornea with particular reference to refractive surgery. Acta Ophthalmol Scand Suppl 225:1–23Google Scholar
  11. 11.
    Huseynova T, Waring GO 4th, Roberts C, Krueger RR, Tomita M (2014) Corneal biomechanics as a function of intraocular pressure and pachymetry by dynamic infrared signal and Scheimpflug imaging analysis in normal eyes. Am J Ophthalmol 157:885–893CrossRefPubMedGoogle Scholar
  12. 12.
    Randleman JB, Dawson DG, Grossniklaus HE, McCarey BE, Edelhauser HF (2008) Depth-dependent cohesive tensile strength in human donor corneas: implications for refractive surgery. J Refract Surg 24:85–89Google Scholar
  13. 13.
    Dawson DG, Grossniklaus HE, McCarey BE, Edelhauser HF (2008) Biomechanical and wound healing characteristics of corneas after excimer laser keratorefractive surgery: is there a difference between advanced surface ablation and sub-Bowman’s keratomileusis? J Refract Surg 24:90–96Google Scholar
  14. 14.
    Chen MC, Lee N, Bourla N, Hamilton DR (2008) Corneal biomechanical measurements before and after laser in situ keratomileusis. J Cataract Refract Surg 34:1886–1891CrossRefPubMedGoogle Scholar
  15. 15.
    Steinberg J, Katz T, Lücke K, Frings A, Druchkiv V, Linke SJ (2015) Screening for keratoconus with new dynamic biomechanical in vivo Scheimpflug analyses. Cornea 34:1404–1412CrossRefPubMedGoogle Scholar
  16. 16.
    Wheatley HM, Traboulsi EI, Flowers BE et al (1995) Immunohistochemical localization of fibrillin in human ocular tissues. Relevance to the Marfan syndrome. Arch Ophthalmol 113:103–109CrossRefPubMedGoogle Scholar
  17. 17.
    Drolsum L, Rand-Hendriksen S, Paus B, Geiran OR, Semb SO (2015) Ocular findings in 87 adults with Ghent-1 verified Marfan syndrome. Acta Ophthalmol 93:46–53CrossRefPubMedGoogle Scholar
  18. 18.
    Maumenee IH (1981) The eye in the Marfan syndrome. Trans Am Ophthalmol Soc 79:684–733PubMedPubMedCentralGoogle Scholar
  19. 19.
    Konradsen TR, Zetterstrom C (2013) A descriptive study of ocular characteristics in Marfan syndrome. Acta Ophthalmol 91:751–755CrossRefPubMedGoogle Scholar
  20. 20.
    Von Kodolitsch Y, Rybczynski M, Vogler M et al (2016) The role of the multidisciplinary health care team in the management of patients with Marfan syndrome. J Multidiscip Healthc 9:587–614CrossRefGoogle Scholar

Copyright information

© Springer-Verlag GmbH Germany, part of Springer Nature 2018

Authors and Affiliations

  • Dido Scheibenberger
    • 1
    • 2
  • Andreas Frings
    • 3
  • Johannes Steinberg
    • 1
    • 4
    • 5
  • Helke Schüler
    • 6
  • Vasyl Druchkiv
    • 1
    • 5
  • Toam Katz
    • 1
    • 5
  • Yskert von Kodolitsch
    • 6
  • Stephan Linke
    • 1
    • 4
    • 5
  1. 1.Department of OphthalmologyUniversity Hospital Hamburg-EppendorfHamburgGermany
  2. 2.University of Hamburg, Medical School, University Hospital Hamburg-EppendorfHamburgGermany
  3. 3.Department of OphthalmologyHeinrich-Heine-University DüsseldorfDüsseldorfGermany
  4. 4.zentrumsehstärkeHamburgGermany
  5. 5.Clínica BavieraValenciaSpain
  6. 6.German Aortic Centre Hamburg at the University Heart CentreUniversity Hospital Hamburg-EppendorfHamburgGermany

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