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Relevance to the Marfan Syndrome

H. Matthew Wheatley, MD; Elias I. Traboulsi, MD; Brian E. Flowers, MD; Irene H. Maumenee, MD; Dmitri Azar, MD; Reed E. Pyeritz, MD; Judith A. Whittum-Hudson, PhD

Arch Ophthalmol. 1995;113(1):103-109.

Abstract
Objective
To better understand the ocular manifestations of the Marfan syndrome, we investigated the distribution of fibrillin in normal human ocular tissues. Fibrillin, a microfibrillar glycoprotein component of the extracellular matrix, has been found to be the defective gene product in the Marfan syndrome.

Methods
Frozen sections from seven pairs of normal eyes were stained with mouse anti—human fibrillin antibodies using the avidin-biotin immunoperoxidase technique.

Results
In the anterior segment, the following exhibited positive staining for fibrillin: the lens capsule and zonules; connective tissues of the iris, ciliary body, ciliary processes, and conjunctiva; and the basement membrane regions of the corneal epithelium and endothelium of Schlemm's canal. Posteriorly, fibrillin localized to the lamina cribrosa, sclera, choroid, and Bruch's membrane.

Conclusions
Fibrillin is widely distributed in ocular connective tissues. The implications of defects in these tissues and the resultant ocular abnormalities in the Marfan syndrome such as ectopia lentis and glaucoma are discussed.

Author Affiliations
From The Johns Hopkins Center for Hereditary Eye Diseases (Drs Wheatley, Traboulsi, Flowers, and Maumenee), the Keratorefractive (Dr Azar) and Cornea (Dr Azar) Services, and the Ocular Immunology Laboratory (Dr Whittum-Hudson), Wilmer Ophthalmological Institute, The Johns Hopkins University School of Medicine, Baltimore, Md; and the Department of Human Genetics (Dr Pyeritz), Allegheny-Singer Research Institute, Pittsburgh, Pa.

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