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(Investigative Ophthalmology and Visual Science. 2005;46:39-45.)
© 2005 by The Association for Research in Vision and Ophthalmology, Inc.
DOI:  10.1167/iovs.04-0533
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VSX1 Mutational Analysis in a Series of Italian Patients Affected by Keratoconus: Detection of a Novel Mutation

Luigi Bisceglia,1 Marilena Ciaschetti,2 Patrizia De Bonis,1 Pablo Alberto Perafan Campo,2 Costantina Pizzicoli,3 Costanza Scala,1 Michele Grifa,1 Pio Ciavarella,1 Nicola Delle Noci,3 Filippo Vaira,4 Claudio Macaluso,5 and Leopoldo Zelante1

1From the Medical Genetics Service and Ophthalmology Department, IRCCS-CSS Hospital, San Giovanni Rotondo (Fg), Italy; the 2Studio Medico Associato, Chieti, Italy; the 3Department of Ophthalmology, University of Foggia, Foggia, Italy; the 4Studio Oculistico, Manfredonia (Fg), Italy; and the 5Department of Ophthalmology, University of Parma, Parma, Italy.

PURPOSE. Keratoconus is a noninflammatory corneal disorder that is clinically and genetically heterogeneous. Mutations in the VSX1 (visual system homeobox 1) gene have been identified for two distinct, inherited corneal dystrophies: posterior polymorphous corneal dystrophy and keratoconus. To evaluate the possible role of the VSX1 gene in a series of Italian patients, 80 keratoconus-affected subjects were screened for mutations.

METHODS. The diagnosis of keratoconus was made on the basis of clinical examination and corneal topography. The whole coding region and the exon–intron junctions of the VSX1 gene were analyzed by direct sequencing.

RESULTS. Three already-described changes, D144E, G160D, and P247R, and a novel L17P mutation were found in 7 of 80 unrelated patients (8.7%). Two undescribed intronic polymorphisms are also reported.

CONCLUSIONS. Mutational analysis of the VSX1 gene in a series of Italian patients revealed one novel mutation and confirmed an important role played by this gene in a significant proportion of patients affected by keratoconus, when it is inherited as an autosomal dominant trait with variable expressivity and incomplete penetrance.




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