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Congenital Corneal Opacification in De Barsy Syndrome
Anthony J. Aldave, MD;
Ralph C. Eagle, Jr, MD;
Barbara W. Streeten, MD;
Joyce Qi, MD;
Irving M. Raber, MD
Arch Ophthalmol. 2001;119:285-288.
A newborn male was noted to have bilateral congenital corneal opacification.
Findings from examination disclosed a variety of dysmorphic features, including
cutis laxa, progeroid aspect, short stature, multiple hyperextensible subluxated
joints, muscular hypotonia, and hyperreflexia. Bilateral penetrating keratoplasties
were performed; histopathologic examination revealed diffuse epithelial thickening,
loss of the Bowman layer, and stromal attenuation with anterior stromal scarring.
Special stains showed no deposition of abnormal material in the corneas. Electron
microscopy demonstrated absence of Bowman layer differentiation with a paucity
of collagen fibers, as well as extensive small elastic fibers in the anterior
stroma. The diagnosis of De Barsy syndrome was made, a rare progeroid syndrome
associated with characteristic ocular, facial, skeletal, dermatologic, and
neurologic abnormalities. De Barsy syndrome should be included in the differential
diagnosis of congenital corneal opacification; its distinctive clinical features
enable the clinician to easily differentiate it from other causes of congenitally
cloudy corneas.
From the Cornea Service (Drs Aldave and Raber) and the Department of
Pathology (Dr Eagle), Wills Eye Hospital, Thomas Jefferson University, Philadelphia,
Pa, and the Departments of Ophthalmology and Pathology (Drs Streeten and Qi),
State University of New York, Upstate Medical University at Syracuse. Dr Aldave
is now with the Francis I. Proctor Foundation and the Department of Ophthalmology,
University of California, San Francisco.
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