97th DOG Annual Meeting 1999
V696
PHENOTYPE-GENOTYPE CORRELATION IN ANIRIDIA
S. Bültmann, K. Rohrschneider, B. Niesler, F. E. Kruse,G. Rappold, A. Blankenagel
The aim of this study was to establish a phenotype-genotype correlation in aniridia by relating morphological changes to findings obtained by molecular biology.
Patients and Methods: 33 patients were grouped in accordance to a previously established classification as well as the biomorphometry of the anterior segment and the visual function. Whenever possible, impression cytology was obtained. In addition, a genetic analysis including cytogenetic assay by means of fluorescence in situ hybridization with the aid of the 4 clones surrounding the WAGR-gene-locus in 11p13 as well as an SSCP analysis of all 14 exons of the PAX6 gene was performed. PCR products with an altered SSCP pattern were sequenced to verify the SSCP results.
Results: The clinical examination showed a homogeneous distribution of the different clinical grades of severity. For impression cytology (n=24), conjunctivalization of the corneal epithelium could be observed especially in patients with corneal pannus or vascularization. Mutations of the PAX6-gene could be detected in 12 patients (exons 5, 6, 9, 11, 12), including 2 new mutations.
Conclusion: Our clinical examination showed the known differences in severity of corneal changes, which could even be found intraindividually. There was no straight relation between the severity of aniridia and the mutations. However, mutations leading to a break of the protein strand in the paired domain, seem to be associated with more severe alterations of the anterior segment.
Augenklinik der Universität Heidelberg, INF 400, D-69120 Heidelberg
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