May 2004
Volume 45, Issue 13
Free
ARVO Annual Meeting Abstract  |   May 2004
Ocular phenotype of alpha 1 and 2 Collagen V mutations in patients with Ehlers–Danlos syndrome gravis
F. Segev; W.G. Cole; R.J. Wenstrup; A.R. Slomovic; D.S. Rootman; E. Héon
Author Affiliations & Notes
  • F. Segev
    Department of Ophthalmology and Vision Sciences, The Hospital for Sick Children, Toronto, ON, Canada
    Department of Ophthalmology, Toronto Western Hospital, Toronto, ON, Canada
  • W.G. Cole
    The Genetics and Genomic Biology Program, The Hospital for Sick Children Research Institute, Toronto, ON, Canada
  • R.J. Wenstrup
    Division of Human Genetics, Cincinnati Children's Hospital, Cincinnati, OH
  • A.R. Slomovic
    Department of Ophthalmology, Toronto Western Hospital, Toronto, ON, Canada
  • D.S. Rootman
    Department of Ophthalmology and Vision Sciences, The Hospital for Sick Children, Toronto, ON, Canada
    Department of Ophthalmology, Toronto Western Hospital, Toronto, ON, Canada
  • E. Héon
    Department of Ophthalmology and Vision Sciences, The Hospital for Sick Children, Toronto, ON, Canada
    The Genetics and Genomic Biology Program, The Hospital for Sick Children Research Institute, Toronto, ON, Canada
  • Footnotes
    Commercial Relationships  F. Segev, None; W.G. Cole, None; R.J. Wenstrup, None; A.R. Slomovic, None; D.S. Rootman, None; E. Héon, None.
  • Footnotes
    Support  none
Investigative Ophthalmology & Visual Science May 2004, Vol.45, 4723. doi:
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      F. Segev, W.G. Cole, R.J. Wenstrup, A.R. Slomovic, D.S. Rootman, E. Héon; Ocular phenotype of alpha 1 and 2 Collagen V mutations in patients with Ehlers–Danlos syndrome gravis . Invest. Ophthalmol. Vis. Sci. 2004;45(13):4723.

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Abstract

Abstract: : Purpose:Collagen type V is an important constituent of type I collagen–rich fibrils in many connective tissues and is a regulator of fibril diameter. Compared to other body tissues, Collagen V is most prevalent in the cornea, accounting for 8–10% of the total corneal collagen. The ocular manifestations of collagen V mutations are unknown. The objective of the study was to determine the ocular manifestations of alpha 1 and 2 collagen V mutations in patients with Ehlers–Danlos syndrome (EDS) gravis. Methods:Seven patients affected with EDS gravis carrying COL5A1 or COL5A2 mutations underwent a comprehensive ocular examination including corrected visual acuity, slit–lamp examination, funduscopy, refraction, corneal topography, pachymetry and specular microscopy. Seven age–matched healthy controls were tested using the same protocol. Results:Four females and three males with a mean age of 22±9 years (range 11–38 years) were included. Corrected visual acuity was 20/25 or better in 93% of eyes. All patients had "floppy eyelids". Blue sclera was not observed. The cornea was thinner in all cases with a mean corneal thickness of 434.92±12.82 microns (range 415–448) as compared to 570.1±28.86 (range 521–605) in the controls, p<0.001. Mean keratometric readings was 46.34±1.39 diopters (D) (range 43.71–49.39D) as compared to 44.11±1.21D in controls, p<0.001. Endothelial cell counts were normal for age. Specular microscopy findings were normal except for one patient who showed small multifocal acellular dark areas. Her slit–lamp examination revealed fine honeycomb–like changes in the central deep stroma and fine cortical opacities of the lenses. Conclusions:The ocular manifestations of EDS patients with the collagen V mutation is mostly reflected by an abnormally thin and steep cornea. This is the first such documentation of ocular findings in EDS patients.

Keywords: genetics • mutations • cornea: clinical science 
© 2004, The Association for Research in Vision and Ophthalmology, Inc., all rights reserved. Permission to republish any abstract or part of an abstract in any form must be obtained in writing from the ARVO Office prior to publication.
Copyright © 2025 Association for Research in Vision and Ophthalmology.
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