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Impressum
GLC1A-mutation screening in a heterogeneous glaucoma population: phenotype-genotype correlations in the Erlanger Glaucoma Registry
1Mardin C., 1Jünemann A., 1Bergua A., 2Rautenstrauss B., 2Michels-Rautenstrauss K.
1Universitätsaugenklinik mit Poliklinik Erlangen, Schwabachanlage 6, 91054 Erlangen 2Institut für Humangenetik Erlangen, Schwabachanlage 4, 91054 Erlangen
Objective: In familiar and sporadic glaucoma cases with various
GLC1Amutations in the ‚trabecular meshwork inducible glucocorticoid
response' (TIGR) gene, synonymous Myocilin (MYOC) are known. These are
associated with early, juvenile and - late onset cases of primary open-angle
glaucomas (pOAG). The aim of this study was a genotype-phenotype correlation
as a result of a MYOC/TIGR-mutation-screening.
Methods: Prospectively 395 sporadic patients of the Erlanger Glaucoma
Registry with glaucoma suspect and manifest glaucoma were consecutively
investigated by slitlamp biomicroscopy, gonioscopy, automated perimetry,
applanation tonometry and optic disc morphology between 1997 and 1999.
10 to 15 ml of EDTA-blood samples were obtained for DNA-extraction after
informed consent. A MYOC/TIGR-SSCP- and sequence analysis was done.
Results: 4.1% (n=16) of the patients showed a mis/nonsense-mutation.
Glaucoma family history was positive in 4.7% of the mutation(+), and in
3.4% of the mutation(-) cases. The most common mutation was the Gln368Stop
(n=7), followed by Arg470Cys (n=4), Asn450Asp (n=2), Val244Asp and Gly434Ser
(n=1). Maximum (IOD) and mean defect (md) in perimetry were in tendency
higher in patients with Arg470Cys and Val244Asp-mutations than in the
others , the area of the neuroretinal rim was smaller (31-47 mmHg zu 25-26
mmHg/ -12-13dB zu 0-2.6dB/ 1.6-2.0mm² zu 0.8-1.0mm²). In the
group of perimetric pOAG most of the mutations were found (7.7%), followed
by preperimetric pOAG (5.3%) and Normal tension glaucomas (4.7%). The
Gln368Stop mutation was found in normals and patients with normal-and
highpressure glaucomas. There was no difference in neuroretinal rim area,
maximum IOD and md between the group of glaucoma patients without any
mutations (n=277) and the group with mutations (n=14).
Conclusion: Only some MYOC/TIGR-mutations are associated with high
IOD and progressed morphologic and perimetric glaucoma damage. The direct
influence of a GLC1A-mutation in sporadic glaucoma patients and suspects
has to be discussed.
Supported by SFB 539