gms | German Medical Science

102. Jahrestagung der DOG

Deutsche Ophthalmologische Gesellschaft e. V.

23. bis 26.09.2004, Berlin

Morphology, family history, age at diagnosis of 26 patients with Axenfeld-Rieger-Syndrom with glaucoma or elevated intraocular pressure (IOP)

Meeting Abstract

Suche in Medline nach

Evidenzbasierte Medizin - Anspruch und Wirklichkeit. 102. Jahrestagung der Deutschen Ophthalmologischen Gesellschaft. Berlin, 23.-26.09.2004. Düsseldorf, Köln: German Medical Science; 2004. Doc04dogP 092

Die elektronische Version dieses Artikels ist vollständig und ist verfügbar unter: http://www.egms.de/de/meetings/dog2004/04dog583.shtml

Veröffentlicht: 22. September 2004

© 2004 Dressler.
Dieser Artikel ist ein Open Access-Artikel und steht unter den Creative Commons Lizenzbedingungen (http://creativecommons.org/licenses/by-nc-nd/3.0/deed.de). Er darf vervielfältigt, verbreitet und öffentlich zugänglich gemacht werden, vorausgesetzt dass Autor und Quelle genannt werden.


Gliederung

Text

Objective

The Axenfeld- Rieger- Syndrome (ARS), for which mutations in two genes (PITX2, FOXC1) are known shows genetic and morphologic heterogeneity, and is associated with glaucoma in 50% of the patients. Do patients with a family history (FH) of ARS or patients with hypoplasia of the iris have a worse glaucoma prognosis or differences in the age at diagnosis compared to patients without a FH of ARS or patients without irishypoplasia?

Methods

Ocular- dental- and systemic- anomalies, maximum IOP, FH of ARS or glaucoma, visual field loss (VFL) and age at diagnosis of 26 consecutively examined patients with ARS and elevated IOP were evaluated.

Results

In 65,4% of the patients hypoplasia of the iris, in 23% iris-hole formation and in 38,5% corectopia were found. 19,2% of the patients had dental anomalies, 11,5% maxillary hypoplasia, 7,6% a failure of periumbilical skin to involute, 11,5% anomalies of the heart and 3,8% hypospadia.12 out of 26 Patients (46,2%) had a FH of ARS, 15 patients (57,7%) had glaucoma, 10 out of these (38,5%) had a combination of ARS and glaucoma in their FH. Patients having ARS in their FH did not show significant differences in IOPmax, frequency of severe VFL, irishypoplasia, glaucoma surgery and the age at diagnosis compared to patients without ARS and without glaucoma in their FH. 17 patients presenting hypoplasia of the iris did not display significant differences in IOPmax, frequency of glaucoma surgery, severe VFL and age at diagnosis, compared to 9 patients without hypoplasia of the iris (7,89±9,8 yrs. vs. 5,4±10 yrs.).

Conclusions

Patients with hypoplasia of the iris and patients with ARS in FH do not show a worse glaucoma-prognosis and not an earlier onset of the disease than patients without irishypoplasia and patients without ARS in the FH respectively.