| Title | Congenital corneal opacification in De Barsy syndrome. | | Author(s) | Aldave AJ, Eagle RC, Streeten BW, Qi J, Raber IM | | Institution | Cornea Service, Wills Eye Hospital, 900 Walnut St, Philadelphia, PA 19107, USA. Raber101@aol.com | | Source | Arch Ophthalmol 2001 Feb; 119(2):285-8. | | MeSH | Abnormalities, Multiple
Cornea
Corneal Opacity
Cutis Laxa
Diagnosis, Differential
Eye Diseases, Hereditary
Humans
Infant, Newborn
Keratoplasty, Penetrating
Male
Progeria
Research Support, Non-U.S. Gov't
Research Support, U.S. Gov't, P.H.S.
Syndrome
| | Abstract | 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. | | Language | eng | | Pub Type(s) | Case Reports
Journal Article
| | PubMed ID | 11176995 |
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