Purchase this article with an account.
Virna Casamenti, Augusto Agostini, Margherita Benedetti, Stefano Benedetti; Keratoconus In Leopard Syndrome. Observational case report. Invest. Ophthalmol. Vis. Sci. 2011;52(14):1079.
Download citation file:
© ARVO (1962-2015); The Authors (2016-present)
LEOPARD Syndrome is an extremely rare inherited dysmorphogenetic disorder of variable penetrance and expressivity characterized by abnormalities of the skin, the structure and function of the heart, the inner ear, the head and craniofacial area, and/or the genitals. To our knowledge, the association with LEOPARD syndrome and keratoconus has not yet been reported. Herein, we report the clinipathologic features of keratoconus in a patient with LEOPARD syndrome.
A 38-year-old woman with LEOPARD syndrome who presented for refractive surgery was examined. The patient had a complete ophthalmic examination including visual acuity, intraocular pressure, slit-lamp biomicroscopy, posterior segment evaluation, videokeratography, Orbscan II topography, Confocal Microscopy.
Corneal videokeratography showed irregular astigmatism in both eyes, with central steepening, inferior-superior dioptric asymmetry, and skewing of the steepest radial axes above and below the horizontal meridian. Orbscan II revealed a thinnest pachymetry of 479 µm in OD and 486 µm in OS, anterior elevation of 0.024 mm in OD and 0.022 mm in OS, and posterior elevation of 0.045 mm in both eyes. Confocal microscopy showed normal superficial and basal epithelial cells; subepithelial nerve plexus appeared irregularly curved, with abnormal branching. In anterior and middle stroma we observed an altered background transparency. In posterior stroma were found microstriae, which appeared as multiple, thin, dark lines with vertical orientation The endothelial cell layer showed mild pleomorphism and some guttae were visible The endothelial cell density was 1692 ± 408 cell/mm2 in the right eye and 2631 ± 144 cell/mm2 in the left eye.On the basis of these findings, the diagnosis of keratoconus was made and the refractive surgery was discouraged.
We report the first association of keratoconus and LEOPARD syndrome; we suggest that keratoconus may represent an unrecognized associated finding in this syndrome.
This PDF is available to Subscribers Only