Abstract

Introduction

Materials & Methods

Results

Discussion & Conclusion

References

Discussion
Board

Primary open angle glaucoma (POAG) is a clinically and genetically heterogenous disease. 6 loci have been identified recently: GLC1A, GLC1B, GLC1C, GLC1E, GLC1F. Juvenile open angle glaucoma (JOAG) is an early-onset form of POAG linked to the GLC1A locus in chr. 1q24.3-25.2. However, several mutations in the GLC1A gene, synonymous Myocilin (MYOC) or trabecular meshwork inducible glucocorticoid repsonse gene (TIGR), have been reported for early as well as late onset types of open angle glaucoma. These mutations are clustered in the coding exon 3. We performed a mutation screening in a group of 400 POAG cases, both familiar and sporadic. In 6 families and 10 sporadic cases an aberrant SSCP pattern was found. Subsequent sequence analysis revealed 6 different, pootentially pathogenic mutations: Pro370Leu, Gly367Arg, Gly434Ser, Asn450Asp, Arg470Cys, Gln368Stop. The Gln368Stop mutation was found in 2 familiar and 1 sporadic case. Interestingly, this mutation was not only found in in POAG patients but also in healthy carriers and low tension glaucoma patients. Hence it seems to be unlikely that this mutation has pathogenic effects in a direct manner. Furthermore twice a Tyr347Tyr polymorphism was found in exon 3. Our data suggest that MYOC plays a crucial, yet unknown, role in POAG pathogenesis. However, the fact that the Gln368Stop mutation was found also in healthy carriers indicates a more complex pathomechanism underlying POAG.

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Presentation Number SAmichels-rautenstraus0533
Keywords: POAG, TIGR, MYOC, GLC1A